Resource OperationDefinition/FHIR Server from package hl7.fhir.uv.genomics-reporting#current (47 ms)

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

Note: links and images are rebased to the (stated) source

Source

{
  "resourceType" : "OperationDefinition",
  "id" : "find-subject-variants",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: OperationDefinition find-subject-variants</b></p><a name=\"find-subject-variants\"> </a><a name=\"hcfind-subject-variants\"> </a><a name=\"find-subject-variants-en-US\"> </a><h3>Parameters</h3><table class=\"grid\"><tr><td><b>Use</b></td><td><b>Name</b></td><td><b>Scope</b></td><td><b>Cardinality</b></td><td><b>Type</b></td><td><b>Binding</b></td><td><b>Documentation</b></td></tr><tr><td>IN</td><td>subject</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"http://hl7.org/fhir/R4/search.html#reference\">reference</a>)</td><td/><td><div><p>The subject of interest.</p>\n</div></td></tr><tr><td>IN</td><td>ranges</td><td/><td>1..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"http://hl7.org/fhir/R4/search.html#special\">special</a>)</td><td/><td><div><p>List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').</p>\n</div></td></tr><tr><td>IN</td><td>testIdentifiers</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"http://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>Supply a list of test identifiers. Only results originating from one of these tests will be returned.</p>\n</div></td></tr><tr><td>IN</td><td>testDateRange</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#Period\">Period</a></td><td/><td><div><p>Supply a date range. Only results generated during this range will be returned.</p>\n</div></td></tr><tr><td>IN</td><td>specimenIdentifiers</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"http://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.</p>\n</div></td></tr><tr><td>IN</td><td>genomicSourceClass</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#code\">code</a></td><td/><td><div><p>Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.</p>\n</div></td></tr><tr><td>IN</td><td>includeVariants</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#boolean\">boolean</a></td><td/><td><div><p>Include variants in response if set to true. Default=false.</p>\n</div></td></tr><tr><td>IN</td><td>includePhasing</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#boolean\">boolean</a></td><td/><td><div><p>If true, then assume includeVariants=true, and return variants and sequence-phase-relationships between returned variants. Default=false.</p>\n</div></td></tr><tr><td>OUT</td><td>variants</td><td/><td>1..*</td><td></td><td/><td><div><p>(one for each range in rangeList)</p>\n</div></td></tr><tr><td>OUT</td><td>variants.rangeItem</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>range from rangeList</p>\n</div></td></tr><tr><td>OUT</td><td>variants.presence</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#boolean\">boolean</a></td><td/><td><div><p>True if as least one variant is identified in the range</p>\n</div></td></tr><tr><td>OUT</td><td>variants.variant</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a></td><td/><td><div><p>If includeVariants=true then include variants in the range. Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] and minimally include valueCodeableConcept; component:genomic-ref-seq; component:ref-allele; component:alt-allele; component:coordinate-system (valued with '0-based interval counting'); component:exact-start-end.</p>\n</div></td></tr><tr><td>OUT</td><td>variants.sequencePhaseRelationship</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a></td><td/><td><div><p>If includePhasing=true and includeVariants=true then include sequence-phase-relationships between returned variants. Sequence phase relationships must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition-sequence-phase-relationship.html] and minimally include valueCodeableConcept and 2..2 derivedFrom:variant references.</p>\n</div></td></tr></table></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-variants",
  "version" : "3.0.0",
  "name" : "FindSubjectVariants",
  "title" : "Find Subject Variants",
  "status" : "active",
  "kind" : "operation",
  "date" : "2024-12-12T20:13:16+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Genomics",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system" : "email",
          "value" : "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "Determine if simple variants are present that overlap range(s).",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "code" : "match",
  "system" : false,
  "type" : true,
  "instance" : false,
  "parameter" : [
    {
      "name" : "subject",
      "use" : "in",
      "min" : 1,
      "max" : "1",
      "documentation" : "The subject of interest.",
      "type" : "string",
      "searchType" : "reference"
    },
    {
      "name" : "ranges",
      "use" : "in",
      "min" : 1,
      "max" : "*",
      "documentation" : "List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').",
      "type" : "string",
      "searchType" : "special"
    },
    {
      "name" : "testIdentifiers",
      "use" : "in",
      "min" : 0,
      "max" : "*",
      "documentation" : "Supply a list of test identifiers. Only results originating from one of these tests will be returned.",
      "type" : "string",
      "searchType" : "token"
    },
    {
      "name" : "testDateRange",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "Supply a date range. Only results generated during this range will be returned.",
      "type" : "Period"
    },
    {
      "name" : "specimenIdentifiers",
      "use" : "in",
      "min" : 0,
      "max" : "*",
      "documentation" : "Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.",
      "type" : "string",
      "searchType" : "token"
    },
    {
      "name" : "genomicSourceClass",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.",
      "type" : "code"
    },
    {
      "name" : "includeVariants",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "Include variants in response if set to true. Default=false.",
      "type" : "boolean"
    },
    {
      "name" : "includePhasing",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "If true, then assume includeVariants=true, and return variants and sequence-phase-relationships between returned variants. Default=false.",
      "type" : "boolean"
    },
    {
      "name" : "variants",
      "use" : "out",
      "min" : 1,
      "max" : "*",
      "documentation" : "(one for each range in rangeList)",
      "part" : [
        {
          "name" : "rangeItem",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "documentation" : "range from rangeList",
          "type" : "string"
        },
        {
          "name" : "presence",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "documentation" : "True if as least one variant is identified in the range",
          "type" : "boolean"
        },
        {
          "extension" : [
            {
              "url" : "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
            }
          ],
          "name" : "variant",
          "use" : "out",
          "min" : 0,
          "max" : "*",
          "documentation" : "If includeVariants=true then include variants in the range. Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] and minimally include valueCodeableConcept; component:genomic-ref-seq; component:ref-allele; component:alt-allele; component:coordinate-system (valued with '0-based interval counting'); component:exact-start-end.",
          "type" : "Observation"
        },
        {
          "extension" : [
            {
              "url" : "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
            }
          ],
          "name" : "sequencePhaseRelationship",
          "use" : "out",
          "min" : 0,
          "max" : "*",
          "documentation" : "If includePhasing=true and includeVariants=true then include sequence-phase-relationships between returned variants. Sequence phase relationships must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition-sequence-phase-relationship.html] and minimally include valueCodeableConcept and 2..2 derivedFrom:variant references.",
          "type" : "Observation"
        }
      ]
    }
  ]
}

XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.