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

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-subject-molecular-consequences
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-subject-molecular-consequences.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-molecular-consequences
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindSubjectMolecularConsequences
TitleFind Subject Molecular Consequences
Realmuv
Authorityhl7
DescriptionRetrieves molecular consequences of a DNA variant.
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-subject-molecular-consequences

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INsubject1..1string
(reference)

The subject of interest.

INvariants0..*string
(string)

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

INranges0..*string
(special)

List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').

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)

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.

OUTconsequence0..*Observation

Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response.

OUTvariant0..*Observation

Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant].


Source

{
  "resourceType": "OperationDefinition",
  "id": "find-subject-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-subject-molecular-consequences",
  "version": "4.0.0-ballot",
  "name": "FindSubjectMolecularConsequences",
  "title": "Find Subject 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": "Retrieves molecular consequences of a DNA variant.",
  "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": 0,
      "max": "*",
      "documentation": "List of variants from which consequences are derived. Must be in HGVS or SPDI format.",
      "type": "string",
      "searchType": "string"
    },
    {
      "name": "ranges",
      "use": "in",
      "min": 0,
      "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": "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": "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"
    },
    {
      "extension": [
        {
          "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
          "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"
        }
      ],
      "name": "consequence",
      "use": "out",
      "min": 0,
      "max": "*",
      "documentation": "Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response.",
      "type": "Observation"
    },
    {
      "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].",
      "type": "Observation"
    }
  ]
}