{
  "resourceType": "StructureDefinition",
  "id": "dna-variant",
  "url": "https://fhir.gsilab.id//StructureDefinition/dna-variant",
  "name": "DNAVariant",
  "title": "DNA Variant",
  "status": "draft",
  "description": "Base profile that defines characteristics shared by all DNA variant observations.",
  "fhirVersion": "4.0.1",
  "kind": "resource",
  "abstract": false,
  "type": "Observation",
  "baseDefinition": "https://fhir.gsilab.id//StructureDefinition/variant",
  "derivation": "constraint",
  "differential": {
    "element": [
      {
        "id": "Observation.meta.profile",
        "path": "Observation.meta.profile",
        "fixedCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
      },
      {
        "id": "Observation.category",
        "path": "Observation.category",
        "slicing": {
          "discriminator": [
            {
              "type": "pattern",
              "path": "coding"
            }
          ],
          "rules": "open"
        },
        "min": 2
      },
      {
        "id": "Observation.category:laboratory",
        "path": "Observation.category",
        "sliceName": "laboratory",
        "min": 1,
        "max": "1"
      },
      {
        "id": "Observation.category:laboratory.coding",
        "path": "Observation.category.coding",
        "min": 1,
        "patternCoding": {
          "code": "laboratory",
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "display": "Laboratory"
        }
      },
      {
        "id": "Observation.category:genetics",
        "path": "Observation.category",
        "sliceName": "genetics",
        "min": 1,
        "max": "1"
      },
      {
        "id": "Observation.category:genetics.coding",
        "path": "Observation.category.coding",
        "min": 1,
        "patternCoding": {
          "code": "GE",
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "display": "Genetics"
        }
      },
      {
        "id": "Observation.code",
        "path": "Observation.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "code": "69548-6",
              "system": "http://loinc.org",
              "display": "Genetic variant assessment"
            }
          ]
        }
      },
      {
        "id": "Observation.component",
        "path": "Observation.component"
      },
      {
        "id": "Observation.component.code",
        "path": "Observation.component.code",
        "definition": "Human Genome Variation Society (HGVS) nomenclature for a single DNA marker.",
        "patternCodeableConcept": {
          "coding": [
            {
              "code": "48004-6",
              "system": "http://loinc.org",
              "display": "DNA change (c.HGVS)"
            }
          ]
        }
      },
      {
        "id": "Observation.component.value[x]",
        "path": "Observation.component.value[x]",
        "slicing": {
          "discriminator": [
            {
              "type": "type",
              "path": "$this"
            }
          ],
          "ordered": false,
          "rules": "open"
        },
        "type": [
          {
            "code": "Quantity"
          },
          {
            "code": "CodeableConcept"
          },
          {
            "code": "string"
          },
          {
            "code": "Range"
          }
        ]
      },
      {
        "id": "Observation.component.value[x]:valueCodeableConcept",
        "path": "Observation.component.value[x]",
        "sliceName": "valueCodeableConcept",
        "short": "A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.",
        "min": 0,
        "max": "1",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ]
      },
      {
        "id": "Observation.component.value[x]:valueCodeableConcept.coding.system",
        "path": "Observation.component.value[x].coding.system",
        "fixedUri": "https://varnomen.hgvs.org"
      },
      {
        "id": "Observation.component.value[x]:valueCodeableConcept.coding.code",
        "path": "Observation.component.value[x].coding.code",
        "min": 1
      },
      {
        "id": "Observation.component.value[x]:valueCodeableConcept.coding.display",
        "path": "Observation.component.value[x].coding.display",
        "min": 1
      }
    ]
  }
}