Connectathon 11 Snapshot

This page is part of the FHIR Specification (v1.2.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

Extension: ObservedVariantHGVS

URL for this extension: 

http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS

Status: draft. Extension maintained by: Health Level Seven International (Clinical Genomics)

Observed Amino acid / cDNA /RNA variant following HGVS nomenclature.

Context of Use: Use on element: Observation

usage info: insert a list of places where this extension is used

Extension Content

Summary

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..*ExtensionURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS
ObservedVariantHGVS: Observed Amino acid / cDNA /RNA variant following HGVS nomenclature.
Use on element: Observation
... genomeBuild1..1CodeableConceptThe Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'.
... name1..1CodeableConceptVariation name using HGVS Nomenclature.

doco Documentation for this format

Fulle Structure

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..*ExtensionURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS
ObservedVariantHGVS: Observed Amino acid / cDNA /RNA variant following HGVS nomenclature.
Use on element: Observation
... extension 1..1ExtensionExtension
.... extension 0..0
.... url 1..1uri"genomeBuild"
.... valueCodeableConcept 1..1CodeableConceptValue of extension
... extension 1..1ExtensionVariationNameHGVS
.... extension 0..0
.... url 1..1uri"name"
.... valueCodeableConcept 1..1CodeableConceptValue of extension
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"
... value[x] 0..0

doco Documentation for this format

XML Template

<!-- ObservedVariantHGVS -->doco

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS" >
 <-- extension sliced by url  in the specified orderOpen-->
 <extension url="genomeBuild"> 1..1 Extension  <!-- 1..1 Extension -->
  <valueCodeableConcept><!-- 1..1 CodeableConcept 
      Value of extension --></valueCodeableConcept>
 </extension>
 <extension url="name"> 1..1 Extension  <!-- 1..1 VariationNameHGVS -->
  <valueCodeableConcept><!-- 1..1 CodeableConcept 
      Value of extension --></valueCodeableConcept>
 </extension>
</extension>

JSON Template

{ // ObservedVariantHGVS
    "extension" : [ //  sliced by url  in the specified orderOpen
      { // Extension // R! 
        // from Element: extension
        "url" : "genomeBuild", // R! 
        "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
      },
      { // VariationNameHGVS // R! 
        // from Element: extension
        "url" : "name", // R! 
        "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
      }
    ],
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS", // R! 
// value[x]: Value of extension. One of these 33:
  }

Summary

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..*ExtensionURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS
ObservedVariantHGVS: Observed Amino acid / cDNA /RNA variant following HGVS nomenclature.
Use on element: Observation
... genomeBuild1..1CodeableConceptThe Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'.
... name1..1CodeableConceptVariation name using HGVS Nomenclature.

doco Documentation for this format

Full Structure

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..*ExtensionURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS
ObservedVariantHGVS: Observed Amino acid / cDNA /RNA variant following HGVS nomenclature.
Use on element: Observation
... extension 1..1ExtensionExtension
.... extension 0..0
.... url 1..1uri"genomeBuild"
.... valueCodeableConcept 1..1CodeableConceptValue of extension
... extension 1..1ExtensionVariationNameHGVS
.... extension 0..0
.... url 1..1uri"name"
.... valueCodeableConcept 1..1CodeableConceptValue of extension
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"
... value[x] 0..0

doco Documentation for this format

XML Template

<!-- ObservedVariantHGVS -->doco

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS" >
 <-- extension sliced by url  in the specified orderOpen-->
 <extension url="genomeBuild"> 1..1 Extension  <!-- 1..1 Extension -->
  <valueCodeableConcept><!-- 1..1 CodeableConcept 
      Value of extension --></valueCodeableConcept>
 </extension>
 <extension url="name"> 1..1 Extension  <!-- 1..1 VariationNameHGVS -->
  <valueCodeableConcept><!-- 1..1 CodeableConcept 
      Value of extension --></valueCodeableConcept>
 </extension>
</extension>

JSON Template

{ // ObservedVariantHGVS
    "extension" : [ //  sliced by url  in the specified orderOpen
      { // Extension // R! 
        // from Element: extension
        "url" : "genomeBuild", // R! 
        "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
      },
      { // VariationNameHGVS // R! 
        // from Element: extension
        "url" : "name", // R! 
        "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
      }
    ],
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS", // R! 
// value[x]: Value of extension. One of these 33:
  }