Phenomics Exchange for Research and Diagnostics
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Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

: Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay). - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://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:Composition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "DevelopmentalDelay"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Phenopacket"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Phenopacket>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Composition </b><a name=\"DevelopmentalDelay\"> </a><a name=\"hcDevelopmentalDelay\"> </a></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\">ResourceComposition &quot;DevelopmentalDelay&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Phenopacket.html\">Phenopacket profile</a></p></div><p><b>identifier</b>: id.treatment.1</p><p><b>status</b>: preliminary</p><p><b>type</b>: Physician Episode of care medical records <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#11516-2)</span></p><p><b>date</b>: 2018-03-16</p><p><b>author</b>: <a href=\"Practitioner-PeterGeneticist.html\">Practitioner/PeterGeneticist</a> &quot; GENETICIST&quot;</p><p><b>title</b>: Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay).</p></div>"
  ] ; # 
  fhir:identifier [
fhir:value [ fhir:v "id.treatment.1" ]
  ] ; # 
  fhir:status [ fhir:v "preliminary"] ; # 
  fhir:type [
    ( fhir:coding [
a loinc:11516-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "11516-2" ] ;
fhir:display [ fhir:v "Physician Episode of care medical records" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/Proband1" ]
  ] ; # 
  fhir:date [ fhir:v "2018-03-16"^^xsd:date] ; # 
  fhir:author ( [
fhir:reference [ fhir:v "Practitioner/PeterGeneticist" ]
  ] ) ; # 
  fhir:title [ fhir:v "Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay)."] ; # 
  fhir:section ( [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "phenotypic_features" ]       ] )     ] ;
    ( fhir:entry [
fhir:reference [ fhir:v "Observation/longPhiltrum" ]     ] [
fhir:reference [ fhir:v "Observation/microphthalmia" ]     ] [
fhir:reference [ fhir:v "Observation/retinalDetachment" ]     ] [
fhir:reference [ fhir:v "Observation/tga" ]     ] [
fhir:reference [ fhir:v "Observation/reducedVisualAcuity" ]     ] [
fhir:reference [ fhir:v "Observation/lowSetEars" ]     ] [
fhir:reference [ fhir:v "Observation/globalDevelopmentalDelay" ]     ] [
fhir:reference [ fhir:v "Observation/muscleWeakness" ]     ] [
fhir:reference [ fhir:v "Observation/hypotonia" ]     ] [
fhir:reference [ fhir:v "Observation/amyotrophy" ]     ] [
fhir:reference [ fhir:v "Observation/hp.0003557" ]     ] )
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "biosamples" ]       ] )     ] ;
    ( fhir:entry [
fhir:reference [ fhir:v "Specimen/biosample.specimen.id.2" ]     ] )
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "diseases" ]       ] )     ] ;
    ( fhir:entry [
fhir:reference [ fhir:v "Condition/intellectualDisabilityDisease" ]     ] )
  ] ) . #