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FHIR IG Statistics: OperationDefinition/find-population-molecular-consequences

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-population-molecular-consequences
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-population-molecular-consequences.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-molecular-consequences
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindPopulationMolecularConsequences
TitleFind Population Molecular Consequences
Realmuv
Authorityhl7
DescriptionRetrieve count or list of patients having molecular consequences.
Typetrue
Kindoperation

Resources that use this resource

No resources found


Resources that this resource uses

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Narrative

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

Generated Narrative: OperationDefinition find-population-molecular-consequences

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INvariants0..*string
(string)

List of variants from which implications are derived. Must be in HGVS or SPDI format.

INfeatureConsequences0..*string
(token)

List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)

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.

INincludePatientList0..1boolean

Include list of matching patients if set to true. Default=false.

OUTconsequences1..1
OUTconsequences.numerator1..1Quantity

Count of patients meeting criteria

OUTconsequences.denominator0..1Quantity

Count of patients in the cohort searched

OUTconsequences.subject0..*string

Patient ID. Include if includePatientList=true


Source

{
  "resourceType": "OperationDefinition",
  "id": "find-population-molecular-consequences",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 2,
      "_valueInteger": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "trial-use",
      "_valueCode": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    }
  ],
  "url": "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-molecular-consequences",
  "version": "4.0.0-ballot",
  "name": "FindPopulationMolecularConsequences",
  "title": "Find Population Molecular Consequences",
  "status": "active",
  "kind": "operation",
  "date": "2025-06-24T17:31:37+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": "Retrieve count or list of patients having molecular consequences.",
  "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": "variants",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "List of variants from which implications are derived. Must be in HGVS or SPDI format.",
      "type": "string",
      "searchType": "string"
    },
    {
      "name": "featureConsequences",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)",
      "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": "includePatientList",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Include list of matching patients if set to true. Default=false.",
      "type": "boolean"
    },
    {
      "name": "consequences",
      "use": "out",
      "min": 1,
      "max": "1",
      "part": [
        {
          "name": "numerator",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "Count of patients meeting criteria",
          "type": "Quantity"
        },
        {
          "name": "denominator",
          "use": "out",
          "min": 0,
          "max": "1",
          "documentation": "Count of patients in the cohort searched",
          "type": "Quantity"
        },
        {
          "name": "subject",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "Patient ID. Include if includePatientList=true",
          "type": "string"
        }
      ]
    }
  ]
}