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

Package hl7.fhir.uv.genomics-reporting
Type OperationDefinition
Id Id
FHIR Version R4
Source http://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-subject-specific-variants.html
Url http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-specific-variants
Version 3.0.0
Status active
Date 2024-12-12T20:13:16+00:00
Name FindSubjectSpecificVariants
Title Find Subject Specific Variants
Experimental False
Realm uv
Authority hl7
Description Determine if specified simple variants are present.
Type true
Kind operation

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

Generated Narrative: OperationDefinition find-subject-specific-variants

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INsubject1..1string
(reference)

The subject of interest.

INvariants1..*string
(string)

List of variants being sought. Must be in HGVS or SPDI format.

INtestIdentifiers0..*string
(token)

Supply a list of test identifiers. Only results originating from one of these tests will be returned.

INtestDateRange0..1Period

Supply a date range. Only results generated during this range will be returned.

INspecimenIdentifiers0..*string
(token)

Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.

INgenomicSourceClass0..1string
(token)

Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.

OUTvariants1..*

(one for each variant in variantList)

OUTvariants.variantItem1..1string

variant from variantList

OUTvariants.presence1..1boolean
OUTvariants.variant0..*Observation

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.


Source

{
  "resourceType" : "OperationDefinition",
  "id" : "find-subject-specific-variants",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: OperationDefinition find-subject-specific-variants</b></p><a name=\"find-subject-specific-variants\"> </a><a name=\"hcfind-subject-specific-variants\"> </a><a name=\"find-subject-specific-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>variants</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#string\">string</a>)</td><td/><td><div><p>List of variants being sought. Must be in HGVS or SPDI format.</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#string\">string</a><br/>(<a href=\"http://hl7.org/fhir/R4/search.html#token\">token</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>OUT</td><td>variants</td><td/><td>1..*</td><td></td><td/><td><div><p>(one for each variant in variantList)</p>\n</div></td></tr><tr><td>OUT</td><td>variants.variantItem</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>variant from variantList</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/></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>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></table></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-specific-variants",
  "version" : "3.0.0",
  "name" : "FindSubjectSpecificVariants",
  "title" : "Find Subject Specific 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 specified simple variants are present.",
  "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" : "variants",
      "use" : "in",
      "min" : 1,
      "max" : "*",
      "documentation" : "List of variants being sought. Must be in HGVS or SPDI format.",
      "type" : "string",
      "searchType" : "string"
    },
    {
      "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" : "string",
      "searchType" : "token"
    },
    {
      "name" : "variants",
      "use" : "out",
      "min" : 1,
      "max" : "*",
      "documentation" : "(one for each variant in variantList)",
      "part" : [
        {
          "name" : "variantItem",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "documentation" : "variant from variantList",
          "type" : "string"
        },
        {
          "name" : "presence",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "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" : "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"
        }
      ]
    }
  ]
}

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