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FHIR IG Statistics: OperationDefinition/find-subject-haplotypes

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-subject-haplotypes
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-subject-haplotypes.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-haplotypes
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindSubjectHaplotypes
TitleFind Subject Haplotypes
Realmuv
Authorityhl7
DescriptionRetrieve haplotypes/genotypes for specified genes.
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-haplotypes

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INsubject1..1string
(reference)

The subject of interest.

INgenes1..*string
(token)

List of genes to be searched. Must be in token or codesystem|code 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 haplotypes irrespective of genomic source class.

OUThaplotypes1..*

(one for each gene in geneList)

OUThaplotypes.geneItem1..1string

gene from geneList

OUThaplotypes.haplotype0..*Observation

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

OUThaplotypes.genotype0..*Observation

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


Source

{
  "resourceType": "OperationDefinition",
  "id": "find-subject-haplotypes",
  "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-haplotypes",
  "version": "4.0.0-ballot",
  "name": "FindSubjectHaplotypes",
  "title": "Find Subject Haplotypes",
  "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 haplotypes/genotypes for specified genes.",
  "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": "genes",
      "use": "in",
      "min": 1,
      "max": "*",
      "documentation": "List of genes to be searched. Must be in token or codesystem|code format.",
      "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 haplotypes irrespective of genomic source class.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "haplotypes",
      "use": "out",
      "min": 1,
      "max": "*",
      "documentation": "(one for each gene in geneList)",
      "part": [
        {
          "name": "geneItem",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "gene from geneList",
          "type": "string"
        },
        {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
            }
          ],
          "name": "haplotype",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype].",
          "type": "Observation"
        },
        {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
            }
          ],
          "name": "genotype",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype].",
          "type": "Observation"
        }
      ]
    }
  ]
}