{
  "resourceType": "StructureDefinition",
  "id": "logicalmodel-Genetictranslocationvariant-R4",
  "url": "http://linkehr.com/fhir/logicalmodel-genetictranslocationvariant-R4",
  "identifier": [
    {
      "system": "openEHR-CKM",
      "value": "openEHR-EHR-CLUSTER.translocation_variant.v0"
    }
  ],
  "version": "0",
  "name": "Genetictranslocationvariant",
  "title": "Genetic translocation variant",
  "status": "draft",
  "date": "2024-06-18",
  "publisher": "openEHR",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.veratech.es"
        }
      ]
    }
  ],
  "description": "Translocation variant.",
  "purpose": "To record the details about a translocation variant observed in a genetic 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": "Genetic_translocation_variant",
        "path": "Genetic_translocation_variant",
        "short": "Genetic translocation variant",
        "definition": "Translocation variant.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": true,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genetic_translocation_variant.Breakpoint_position_1",
        "path": "Genetic_translocation_variant.Breakpoint_position_1",
        "short": "Breakpoint position 1",
        "definition": "Position of first breakpoint relative to start of \\\"Chromosome 1\\\".",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Breakpoint_position_1",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Genetic_translocation_variant.Breakpoint_position_1.value",
        "path": "Genetic_translocation_variant.Breakpoint_position_1.value",
        "short": "Breakpoint position 1",
        "definition": "Position of first breakpoint relative to start of \\\"Chromosome 1\\\".",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Breakpoint_position_1.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genetic_translocation_variant.Strand_1",
        "path": "Genetic_translocation_variant.Strand_1",
        "short": "Strand 1",
        "definition": "A value of \\\"+\\\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment at the first breakpoint right of \\\"Breakpoint position 1\\\". A value of \\\"-\\\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment of the first breakpoint left of \\\"Breakpoint position 1\\\".",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Strand_1",
          "min": 0,
          "max": "1"
        }
      },
      {
        "id": "Genetic_translocation_variant.Strand_1.value",
        "path": "Genetic_translocation_variant.Strand_1.value",
        "short": "Strand 1",
        "definition": "A value of \\\"+\\\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment at the first breakpoint right of \\\"Breakpoint position 1\\\". A value of \\\"-\\\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment of the first breakpoint left of \\\"Breakpoint position 1\\\".",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Strand_1.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genetic_translocation_variant.Reference_sequence_1",
        "path": "Genetic_translocation_variant.Reference_sequence_1",
        "short": "Reference sequence 1",
        "definition": "Chromosome of first breakpoint.",
        "min": 0,
        "max": "*",
        "base": {
          "path": "Genetic_translocation_variant.Reference_sequence_1",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genetic_translocation_variant.Breakpoint_position_2",
        "path": "Genetic_translocation_variant.Breakpoint_position_2",
        "short": "Breakpoint position 2",
        "definition": "Position of second breakpoint relative to start of \\\"Chromosome 2\\\".",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Breakpoint_position_2",
          "min": 1,
          "max": "1"
        }
      },
      {
        "id": "Genetic_translocation_variant.Breakpoint_position_2.value",
        "path": "Genetic_translocation_variant.Breakpoint_position_2.value",
        "short": "Breakpoint position 2",
        "definition": "Position of second breakpoint relative to start of \\\"Chromosome 2\\\".",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Breakpoint_position_2.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genetic_translocation_variant.Strand_2",
        "path": "Genetic_translocation_variant.Strand_2",
        "short": "Strand 2",
        "definition": "A value of \\\"+\\\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment at the second breakpoint right of \\\"Breakpoint position 2\\\". A value of \\\"-\\\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment of the second breakpoint left of \\\"Breakpoint position 2\\\".",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Strand_2",
          "min": 0,
          "max": "1"
        }
      },
      {
        "id": "Genetic_translocation_variant.Strand_2.value",
        "path": "Genetic_translocation_variant.Strand_2.value",
        "short": "Strand 2",
        "definition": "A value of \\\"+\\\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment at the second breakpoint right of \\\"Breakpoint position 2\\\". A value of \\\"-\\\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment of the second breakpoint left of \\\"Breakpoint position 2\\\".",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.Strand_2.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genetic_translocation_variant.Reference_sequence_2",
        "path": "Genetic_translocation_variant.Reference_sequence_2",
        "short": "Reference sequence 2",
        "definition": "Chromosome of second breakpoint.",
        "min": 0,
        "max": "*",
        "base": {
          "path": "Genetic_translocation_variant.Reference_sequence_2",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "BackboneElement"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      },
      {
        "id": "Genetic_translocation_variant.HGVS_term",
        "path": "Genetic_translocation_variant.HGVS_term",
        "short": "HGVS term",
        "definition": "The description of the variant using the recommendations of the accepted HGVS nomeclature named extension ISCN.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.HGVS_term",
          "min": 0,
          "max": "1"
        }
      },
      {
        "id": "Genetic_translocation_variant.HGVS_term.value",
        "path": "Genetic_translocation_variant.HGVS_term.value",
        "short": "HGVS term",
        "definition": "The description of the variant using the recommendations of the accepted HGVS nomeclature named extension ISCN.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Genetic_translocation_variant.HGVS_term.value",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": false,
        "isModifier": false,
        "isSummary": true
      }
    ]
  }
}