HLA Reporting Implementation Guide
0.0.1 - Draft

HLA Reporting Implementation Guide - Local Development build (v0.0.1). See the Directory of published versions

: HLA-B*57:01:01:01 Allele Example - TTL Representation

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@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 xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "HLA-B-AlleleExample1"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-allele";
       fhir:index 0;
       fhir:link <http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-allele>     ]
  ];
  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>: HLA-B-AlleleExample1</p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow\">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '84414-2' = 'Haplotype name)</span></p><p><b>value</b>: hla#3.25.0#HLA-B*57:01:01:01 <span style=\"background: LightGoldenRodYellow\">(Details : {http://glstring.org code 'hla#3.25.0#HLA-B*57:01:01:01' = 'hla#3.25.0#HLA-B*57:01:01:01)</span></p><p><b>derivedFrom</b>: <a href=\"MolecularSequence-HLA-B-SequenceExample1.html\">Generated Summary: id: HLA-B-SequenceExample1; type: dna; 0; observedSeq: GATCAGGACGAAGTCCCAGGTCCCGGACGGGGCTCTCAGGGTCTCAGGCTCCGAGAGCCTTGTCTGCATTGGGGAGGCGCAGCGTTGGGGATTCCCCACTCCCACGAGTTTCACTTCTTCTCCCAACCTGTGTCGGGTCCTTCTTCCAGGATACTCGTGACGCGTCCCCATTTCCCACTCCCATTGGGTGTCGGGTGTCTAGAGAAGCCAATCAGCGTCGCCGCGGTCCCAGTTCTAAAGTCCCCACGCACCCACCCGGACTCAGAATCTCCTCAGACGCCGAGATGCGGGTCACGGCACCCCGAACCGTCCTCCTGCTGCTCTGGGGGGCAGTGGCCCTGACCGAGACCTGGGCCGGTGAGTGCGGGTCGGCAGGGAAATGGCCTCTGTAGGGAGGAGCAAGGGGACCGCAGGCGGGGGCGCAGGACCCGGGGAGCCGCGCCGGGAGGAGGGTCGGGCGGGTCTCAGCCCCTCCTCGCCCCCAGGCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACGGGGAGACACGGAACATGAAGGCCTCCGCGCAGACTTACCGAGAGAACCTGCGGATCGCGCTCCGCTACTACAACCAGAGCGAGGCCGGTGAGTGACCCCGGCCCGGGGCGCAGGTCACGACTCCCCATCCCCCACGTACGGCCCGGGTCGCCCCGAGTCTCCGGGTCCGAGATCCACCCCCCTGAGGCCGCGGGACCCGCCCAGACCCTCGACCGGCGAGAGCCCCAGGCGCGTTTACCCGGTTTCATTTTCAGTTGAGGCCAAAATCCCCGCGGGTTGGTCAGGGCGGGGCGGGGCTCGGGGGGACGGGGCTGACCGCGGGGCCGGGGCCAGGGTCTCACATCATCCAGGTGATGTATGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGTGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGGGTACCAGGGGCAGTGGGGAGCCTTCCCCATCTCCTATAGGTCGCCGGGGATGGCCTCCCACGAGAAGAGGAGGAAAATGGGATCAGCGCTAGAATGTCGCCCTCCCTTGAATGGAGAATGGCATGAGTTTTCCTGAGTTTCCTCTGAGGGCCCCCTCTTCTCTCTAGGACAATTAAGGGATGACGTCTCTGAGGAAATGGAGGGGAAGACAGTCCCTAGAATACTGATCAGGGGTCCCCTTTGACCCCTGCAGCAGCCTTGGGAACCGTGACTTTTCCTCTCAGGCCTTGTTCTCTGCCTCACACTCAGTGTGTTTGGGGCTCTGATTCCAGCACTTCTGAGTCACTTTACCTCCACTCAGATCAGGAGCAGAAGTCCCTGTTCCCCGCTCAGAGACTCGAACTTTCCAATGAATAGGAGATTATCCCAGGTGCCTGCGTCCAGGCTGGTGTCTGGGTTCTGTGCCCCTTCCCCACCCCAGGTGTCCTGCCCATTCTCAGGCTGGTCACATGGGTGGTCCTAGGGTGTCCCATGAGAGATGCAAAGCGCCTGAATTTTCTGACTCTTCCCATCAGACCCCCCAAAGACACATGTGACCCACCACCCCATCTCTGACCATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCACACTGACCTGGCAGCGGGATGGCGAGGACCAAACTCAGGACACCGAGCTTGTGGAGACCAGACCAGCAGGAGATAGAACCTTCCAGAAGTGGGCAGCTGTGGTGGTGCCTTCTGGAGAAGAGCAGAGATACACATGCCATGTACAGCATGAGGGGCTGCCAAAGCCCCTCACCCTGAGATGGGGTAAGGAGGGGGATGAGGGGTCATATCTCTTCTCAGGGAAAGCAGGAGCCCTTCTGGAGCCCTTCAGCAGGGTCAGGGCCCCTCATCTTCCCCTCCTTTCCCAGAGCCATCTTCCCAATCCACCGTCCCCATCGTGGGCATTGTTGCTGGCCTGGCTGTCCTAGCAGTTGTGGTCATCGGAGCTGTGGTCGCTGCTGTGATGTGTAGGAGGAAGAGCTCAGGTAGGGAAGGGGTGAGGGGTGGGGTCTGGGTTTTCTTGTCCCACTGGGGGTTTCAAGCCCCAGGTAGAAGTGTTCCCTGCCTCATTACTGGGAAGCAGCATGCACACAGGGGCTAACGCAGCCTGGGACCCTGTGTGCCAGCACTTACTCTTTTGTGCAGCACATGTGACAATGAAGGACGGATGTATCACCTCGATGGTTGTGGTGTTGGGGTCCTGATTCCAGCATTCATGAGTCAGGGGAAGGTCCCTGCTAAGGACAGACCTTAGGAGAGCAGTTGGTCCAGGACCCACACTTGCTTTCCTCGTGTTTCCTGATCCTGCCCTGGGTCTGTAGTCATACTTCTGGAAATTCCTTTTGGGTCCAAGACGAGGAGGTTCCTCTAAGATCTCATGGCCCTGCTTCCTCCCAGTCCCCTCACAGGACATTTTCTTCCCACAGGTGGAAAAGGAGGGAGCTACTCTCAGGCTGCGTGTAAGTGGTGGGGGTGGGAGTGTGGAGGAGCTCACCCACCCCATAATTCCTCCTGTCCCACGTCTCCTGCGGGCTCTGACCAGGTCCTGTTTTTGTTCTACTCCAGGCAGCGACAGTGCCCAGGGCTCTGATGTGTCTCTCACAGCTTGAAAAGGTGAGATTCTTGGGGTCTAGAGTGGGTGGGGGTGGCGGGTCTGGGGCGGGGTGGGGCAGAGGGGAAAGGCCTGGGTAATGGAGATTCTTTGATTGGGATGTTTCGCGTGTGTGGTGGGCTGTTCAGAGTGTCATCACTTACCATGACTCACCAGAATTTGTTCATGACTGTTGTTTTCTGTAGCCTGAGACAGCTGTCTTGTGAGGGACTGAGATGCAGGATTTCTTCACGCCTCCCCTTTGTGACTTCAAGAGCCTCTGGCATCTCTTTCTGCAAAGGCACCTGAATGTGTCTGCGTCCCTGTTAGCCTAATGTGAGGAGGTGGAGAGACAGCCCAACCTTGTGTCCACTGTGACCCCTGTTCCCATGCTGACCTGTGTTTCCTCCCCAGTCATCTTTCTTGTTCCAGAGAGGTGGGGCTGGATGTCTCCATCTCTGTCTCAACTTTATGTGCACTGAGCTGCAACTTCTTACTTCCCTGCTGAAAATAAGAATCTGAATATCAATTTGTTTTCTCAAATATTTGCTATGAGAGGTTGATGGATTAATTAAATAAGTCAATTCCTGGAATTTGAGAGAGCAAATAAAGACCTGAGAACCTTCCAGAATCTGCATGTTCGCTGTGCTGAGTCTGTTGCAGGTGGGGTGTGGAGAAGGCTGTGGGGGGCCGAGTGTGGACGGGGCCTGTGCCCATTTGGTGTTGAGTCCATCATGGGCTTTATGTGGTTAGTCCTCAGCTGGGTCACCTTCACTGCTCCATTGTCCTTGTCCCTTCAGTGGAAACTTGTCCAGCGGGAGCTGTGACCACAGAGGCTCACACATCGCCCAGGGCGGCCCCTGCACACGGGGGTCTCTGTGCATTCTGAGACAAATTTTCAGAGCCATTCACCTCCTGCCCTGCTTCTAGAGCTCCTTTTCTGCTCTGCTCTTCTGCCCTCTCTCCCTGCCCTGGTTCTAGTGATCTTGGTGCTGAATCCAATCCCAACTCATGAATCTGTAAAGCAGAGTCTAATTTAGAGTTACATTTGTCTGTGAAATTGGACCCGTCATCAAGGACTGTTCTTTCCTGAAGAGAGAACCTGATTGTGTGCTGCAGTGTGCTGGGGCAGGGGGTGCGG</a></p><h3>Components</h3><table class=\"grid\"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>Gene studied [ID] <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '48018-6' = 'Gene studied [ID])</span></td><td>HLA-B <span style=\"background: LightGoldenRodYellow\">(Details : {http://www.genenames.org/geneId code 'HGNC:4932' = 'HLA-B', given as 'HLA-B'})</span></td></tr></table></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:84414-2;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "84414-2" ]     ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://glstring.org" ];
       fhir:Coding.code [ fhir:value "hla#3.25.0#HLA-B*57:01:01:01" ]     ]
  ];
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "MolecularSequence/HLA-B-SequenceExample1" ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:4932" ];
         fhir:Coding.display [ fhir:value "HLA-B" ]       ]     ]
  ].

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

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