{
  "resourceType": "StructureDefinition",
  "id": "logicalmodel-Simplegeneticvariant-R4",
  "url": "http://linkehr.com/fhir/logicalmodel-simplegeneticvariant-R4",
  "identifier": [
    {
      "system": "openEHR-CKM",
      "value": "openEHR-EHR-CLUSTER.simple_variant.v0"
    }
  ],
  "version": "0",
  "name": "Simplegeneticvariant",
  "title": "Simple genetic variant",
  "status": "draft",
  "date": "2024-06-18",
  "publisher": "openEHR",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.veratech.es"
        }
      ]
    }
  ],
  "description": "A sequence change where, compared to a reference sequence, a one or more nucleotides are changed.",
  "purpose": "To describe a variant observed in a sequence, where the variant type is unknown, for example, because no annotation of the data has yet been made, or because the specific variant is not covered by the specialized variant archetypes.",
  "fhirVersion": "4.0.0",
  "mapping": [
    {
      "identity": "openEHR",
      "uri": "http://openehr.org",
      "name": "openEHR Mapping"
    },
    {
      "identity": "openEHR-natural",
      "uri": "http://openehr.org",
      "name": "openEHR natural path"
    }
  ],
  "kind": "logical",
  "abstract": false,
  "type": "StructureDefinition",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Element",
  "snapshot": {
    "element": [
      {
        "id": "Simple_genetic_variant",
        "path": "Simple_genetic_variant",
        "short": "Simple genetic variant",
        "definition": "A sequence change where, compared to a reference sequence, a one or more nucleotides are changed.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": true,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Simple_genetic_variant.Chromosome_label",
        "path": "Simple_genetic_variant.Chromosome_label",
        "short": "Chromosome label",
        "definition": "Chromosome identifier.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Chromosome_label",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Simple_genetic_variant.Chromosome_label.value_DV_CODED_TEXT",
        "path": "Simple_genetic_variant.Chromosome_label.value_DV_CODED_TEXT",
        "short": "Chromosome label",
        "definition": "Chromosome identifier.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Chromosome_label.value_DV_CODED_TEXT",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Simple_genetic_variant.Chromosome_label.value_DV_TEXT",
        "path": "Simple_genetic_variant.Chromosome_label.value_DV_TEXT",
        "short": "Chromosome label",
        "definition": "Chromosome identifier.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Chromosome_label.value_DV_TEXT",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Simple_genetic_variant.Start_position_of_variant",
        "path": "Simple_genetic_variant.Start_position_of_variant",
        "short": "Start position of variant",
        "definition": "The position of the first nucleotide of the changed range for a simple variant. (\\\"Start\\\" in vcf-file).",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Start_position_of_variant",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Simple_genetic_variant.Start_position_of_variant.value",
        "path": "Simple_genetic_variant.Start_position_of_variant.value",
        "short": "Start position of variant",
        "definition": "The position of the first nucleotide of the changed range for a simple variant. (\\\"Start\\\" in vcf-file).",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Start_position_of_variant.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Simple_genetic_variant.End_position_of_variant",
        "path": "Simple_genetic_variant.End_position_of_variant",
        "short": "End position of variant",
        "definition": "The position of the last nucleotide of the changed range for a simple variant. (\\\"End\\\" in vcf-file).",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.End_position_of_variant",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Simple_genetic_variant.End_position_of_variant.value",
        "path": "Simple_genetic_variant.End_position_of_variant.value",
        "short": "End position of variant",
        "definition": "The position of the last nucleotide of the changed range for a simple variant. (\\\"End\\\" in vcf-file).",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.End_position_of_variant.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Simple_genetic_variant.Alternate_nucleotide_sequence",
        "path": "Simple_genetic_variant.Alternate_nucleotide_sequence",
        "short": "Alternate nucleotide sequence",
        "definition": "The observed alternate nucleotide or nucleotide sequence (\\\"Alt\\\" in vcf-file).",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Alternate_nucleotide_sequence",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Simple_genetic_variant.Alternate_nucleotide_sequence.value",
        "path": "Simple_genetic_variant.Alternate_nucleotide_sequence.value",
        "short": "Alternate nucleotide sequence",
        "definition": "The observed alternate nucleotide or nucleotide sequence (\\\"Alt\\\" in vcf-file).",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Alternate_nucleotide_sequence.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Simple_genetic_variant.Reference_nucleotide_sequence",
        "path": "Simple_genetic_variant.Reference_nucleotide_sequence",
        "short": "Reference nucleotide sequence",
        "definition": "The reference nucleotide or nucleotide sequence. (\\\"Ref\\\" in vcf-file).",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Reference_nucleotide_sequence",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Simple_genetic_variant.Reference_nucleotide_sequence.value",
        "path": "Simple_genetic_variant.Reference_nucleotide_sequence.value",
        "short": "Reference nucleotide sequence",
        "definition": "The reference nucleotide or nucleotide sequence. (\\\"Ref\\\" in vcf-file).",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Simple_genetic_variant.Reference_nucleotide_sequence.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Simple_genetic_variant.Reference_sequence",
        "path": "Simple_genetic_variant.Reference_sequence",
        "short": "Reference sequence",
        "definition": "The sequence file that has been used as a reference to describe the variant.",
        "min": 0,
        "max": "*",
        "base": {
          "path": "Simple_genetic_variant.Reference_sequence",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      }
    ]
  }
}