{
  "resourceType": "StructureDefinition",
  "id": "logicalmodel-Genomicrepeatedsequencevariant-R4",
  "url": "http://linkehr.com/fhir/logicalmodel-genomicrepeatedsequencevariant-R4",
  "identifier": [
    {
      "system": "openEHR-CKM",
      "value": "openEHR-EHR-CLUSTER.genomic_repeated_sequence_variant.v1"
    }
  ],
  "version": "0",
  "name": "Genomicrepeatedsequencevariant",
  "title": "Genomic repeated sequence variant",
  "status": "draft",
  "date": "2024-06-18",
  "publisher": "openEHR",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.veratech.es"
        }
      ]
    }
  ],
  "description": "A human genetic sequence change where, compared to a genomic reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other.",
  "purpose": "To record the details about a repeated sequence variant of human DNA, observed in a genomic sequence.",
  "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": "Genomic_repeated_sequence_variant",
        "path": "Genomic_repeated_sequence_variant",
        "short": "Genomic repeated sequence variant",
        "definition": "A human genetic sequence change where, compared to a genomic reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": true,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genomic_repeated_sequence_variant.Start_position",
        "path": "Genomic_repeated_sequence_variant.Start_position",
        "short": "Start position",
        "definition": "Position of the first nucleotide of the repeated range.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Start_position",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Genomic_repeated_sequence_variant.Start_position.value",
        "path": "Genomic_repeated_sequence_variant.Start_position.value",
        "short": "Start position",
        "definition": "Position of the first nucleotide of the repeated range.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Start_position.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genomic_repeated_sequence_variant.End_position",
        "path": "Genomic_repeated_sequence_variant.End_position",
        "short": "End position",
        "definition": "Position of the last nucleotide of the repeated range.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.End_position",
          "min": 0,
          "max": "1"
        }
      },
      {
        "id": "Genomic_repeated_sequence_variant.End_position.value",
        "path": "Genomic_repeated_sequence_variant.End_position.value",
        "short": "End position",
        "definition": "Position of the last nucleotide of the repeated range.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.End_position.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genomic_repeated_sequence_variant.Repeat_unit",
        "path": "Genomic_repeated_sequence_variant.Repeat_unit",
        "short": "Repeat unit",
        "definition": "A repeated unit consisting of a repeated sequence and a copy number.",
        "min": 1,
        "max": "*",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Repeat_unit",
          "min": 1,
          "max": "*"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": true,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order",
        "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order",
        "short": "Repeat order",
        "definition": "The intended position of this repeat unit within the overall sequence of repeat units.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order",
          "min": 0,
          "max": "1"
        }
      },
      {
        "id": "Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order.value",
        "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order.value",
        "short": "Repeat order",
        "definition": "The intended position of this repeat unit within the overall sequence of repeat units.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence",
        "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence",
        "short": "Repeated sequence",
        "definition": "The sequence of nucleotides that has been repeated.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence",
          "min": 0,
          "max": "1"
        }
      },
      {
        "id": "Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence.value",
        "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence.value",
        "short": "Repeated sequence",
        "definition": "The sequence of nucleotides that has been repeated.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genomic_repeated_sequence_variant.Repeat_unit.Copy_number",
        "path": "Genomic_repeated_sequence_variant.Repeat_unit.Copy_number",
        "short": "Copy number",
        "definition": "The total number of times the 'Repeated sequence' was repeated.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Repeat_unit.Copy_number",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Genomic_repeated_sequence_variant.Repeat_unit.Copy_number.value",
        "path": "Genomic_repeated_sequence_variant.Repeat_unit.Copy_number.value",
        "short": "Copy number",
        "definition": "The total number of times the 'Repeated sequence' was repeated.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Repeat_unit.Copy_number.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genomic_repeated_sequence_variant.Reference_sequence",
        "path": "Genomic_repeated_sequence_variant.Reference_sequence",
        "short": "Reference sequence",
        "definition": "The sequence file used as a reference to describe this variant.",
        "min": 0,
        "max": "*",
        "base": {
          "path": "Genomic_repeated_sequence_variant.Reference_sequence",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      }
    ]
  }
}