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Packagesynapxe.sgcdi
Resource TypeStructureDefinition
Idprofile-variant.StructureDefinition.json
FHIR VersionR5
Sourcehttps://simplifier.net/resolve?scope=synapxe.sgcdi@1.2.3&canonical=https://fhir.synapxe.sg/StructureDefinition/profile-variant
URLhttps://fhir.synapxe.sg/StructureDefinition/profile-variant
Version1.2.3
Statusactive
NameVariant
TitleGenomics Variant Profile
DescriptionGenomics variant profile constrained from Observation.
TypeObservation
Kindresource

Resources that use this resource

StructureDefinition
synapxe.sgcdi#1.2.3profile-bundle-genomicsreportGenomics Report Bundle Profile
synapxe.sgcdi#1.2.3profile-genomicsreportGenomics Report Profile

Resources that this resource uses

StructureDefinition
synapxe.sgcdi#1.2.3profile-codeableconceptCodeableConcept Type Profile
ValueSet
synapxe.sgcdi#1.2.3genomics-componentGenomics Component Value Set
synapxe.sgcdi#1.2.3genomics-observation-categoryGenomics Observation Category Value Set

Narrative

No narrative content found in resource


Source1

{
  "resourceType": "StructureDefinition",
  "id": "profile-variant",
  "url": "https://fhir.synapxe.sg/StructureDefinition/profile-variant",
  "version": "1.2.3",
  "name": "Variant",
  "title": "Genomics Variant Profile",
  "status": "active",
  "publisher": "Synapxe",
  "description": "Genomics variant profile constrained from Observation.",
  "fhirVersion": "5.0.0",
  "kind": "resource",
  "abstract": false,
  "type": "Observation",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Observation",
  "derivation": "constraint",
  "differential": {
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}