{
  "description": "Dieses Profil ermöglicht eine vollständige Beschreibung der gefundenen Variante unter Verwendung von Eigenschaften aus einer Vielzahl von Testmethoden.",
  "_filename": "StructureDefinition-mii-pr-molgen-variante.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MolGen_Variante",
  "mapping": [ {
    "name": "MII KDS Mapping",
    "identity": "MII-KDS"
  } ],
  "abstract": false,
  "type": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR MolGen Variante",
  "package_version": "2025.0.0-alpha1",
  "status": "active",
  "id": "9abb05c2-b1dd-42ce-afa2-e4355e9f7ca2",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
  "version": "2025.0.0",
  "differential": {
    "element": [ {
      "id": "Observation.status",
      "path": "Observation.status",
      "mustSupport": true
    }, {
      "id": "Observation.category",
      "path": "Observation.category",
      "mustSupport": true
    }, {
      "id": "Observation.code",
      "path": "Observation.code",
      "mustSupport": true
    }, {
      "id": "Observation.subject",
      "min": 1,
      "path": "Observation.subject",
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ]
      } ],
      "mustSupport": true
    }, {
      "id": "Observation.value[x]",
      "path": "Observation.value[x]",
      "mustSupport": true
    }, {
      "id": "Observation.method",
      "path": "Observation.method",
      "mustSupport": true
    }, {
      "id": "Observation.specimen",
      "path": "Observation.specimen",
      "mustSupport": true
    }, {
      "id": "Observation.device",
      "path": "Observation.device",
      "mustSupport": true
    }, {
      "id": "Observation.component:conclusion-string",
      "path": "Observation.component",
      "sliceName": "conclusion-string",
      "mustSupport": true
    }, {
      "id": "Observation.component:gene-studied",
      "path": "Observation.component",
      "mapping": [ {
        "map": "mide-dataelement-1400",
        "comment": "Getestete Gene ID",
        "identity": "MII-KDS"
      } ],
      "sliceName": "gene-studied",
      "mustSupport": true
    }, {
      "id": "Observation.component:cytogenetic-location",
      "path": "Observation.component",
      "sliceName": "cytogenetic-location",
      "mustSupport": true
    }, {
      "id": "Observation.component:reference-sequence-assembly",
      "path": "Observation.component",
      "sliceName": "reference-sequence-assembly",
      "mustSupport": true
    }, {
      "id": "Observation.component:coding-hgvs",
      "path": "Observation.component",
      "sliceName": "coding-hgvs",
      "mustSupport": true
    }, {
      "id": "Observation.component:genomic-hgvs",
      "path": "Observation.component",
      "sliceName": "genomic-hgvs",
      "mustSupport": true
    }, {
      "id": "Observation.component:genomic-ref-seq",
      "path": "Observation.component",
      "sliceName": "genomic-ref-seq",
      "mustSupport": true
    }, {
      "id": "Observation.component:transcript-ref-seq",
      "path": "Observation.component",
      "sliceName": "transcript-ref-seq",
      "mustSupport": true
    }, {
      "id": "Observation.component:exact-start-end",
      "path": "Observation.component",
      "sliceName": "exact-start-end",
      "mustSupport": true
    }, {
      "id": "Observation.component:inner-start-end",
      "path": "Observation.component",
      "sliceName": "inner-start-end",
      "mustSupport": true
    }, {
      "id": "Observation.component:outer-start-end",
      "path": "Observation.component",
      "sliceName": "outer-start-end",
      "mustSupport": true
    }, {
      "id": "Observation.component:ref-allele",
      "path": "Observation.component",
      "sliceName": "ref-allele",
      "mustSupport": true
    }, {
      "id": "Observation.component:alt-allele",
      "path": "Observation.component",
      "sliceName": "alt-allele",
      "mustSupport": true
    }, {
      "id": "Observation.component:coding-change-type",
      "path": "Observation.component",
      "sliceName": "coding-change-type",
      "mustSupport": true
    }, {
      "id": "Observation.component:genomic-source-class",
      "path": "Observation.component",
      "sliceName": "genomic-source-class",
      "mustSupport": true
    }, {
      "id": "Observation.component:sample-allelic-frequency",
      "path": "Observation.component",
      "sliceName": "sample-allelic-frequency",
      "mustSupport": true
    }, {
      "id": "Observation.component:allelic-read-depth",
      "path": "Observation.component",
      "sliceName": "allelic-read-depth",
      "mustSupport": true
    }, {
      "id": "Observation.component:allelic-state",
      "path": "Observation.component",
      "sliceName": "allelic-state",
      "mustSupport": true
    }, {
      "id": "Observation.component:variant-inheritance",
      "path": "Observation.component",
      "sliceName": "variant-inheritance",
      "mustSupport": true
    }, {
      "id": "Observation.component:variation-code",
      "path": "Observation.component",
      "sliceName": "variation-code",
      "mustSupport": true
    }, {
      "id": "Observation.component:chromosome-identifier",
      "path": "Observation.component",
      "sliceName": "chromosome-identifier",
      "mustSupport": true
    }, {
      "id": "Observation.component:protein-hgvs",
      "path": "Observation.component",
      "sliceName": "protein-hgvs",
      "mustSupport": true
    }, {
      "id": "Observation.component:amino-acid-change-type",
      "path": "Observation.component",
      "sliceName": "amino-acid-change-type",
      "mustSupport": true
    }, {
      "id": "Observation.component:molecular-consequence",
      "path": "Observation.component",
      "sliceName": "molecular-consequence",
      "mustSupport": true
    }, {
      "id": "Observation.component:copy-number",
      "path": "Observation.component",
      "sliceName": "copy-number",
      "mustSupport": true
    }, {
      "id": "Observation.component:variant-confidence-status",
      "path": "Observation.component",
      "sliceName": "variant-confidence-status",
      "mustSupport": true
    }, {
      "id": "Observation.component:dna-region",
      "max": "*",
      "min": 0,
      "path": "Observation.component",
      "short": "DNA region name [Identifier]",
      "sliceName": "dna-region",
      "definition": "A human readable name for the region of interest. Typically Exon #, Intron # or other.",
      "mustSupport": true
    }, {
      "id": "Observation.component:dna-region.code",
      "path": "Observation.component.code",
      "short": "47999-8",
      "patternCodeableConcept": {
        "coding": [ {
          "code": "47999-8",
          "system": "http://loinc.org"
        } ]
      }
    }, {
      "id": "Observation.component:dna-region.value[x]",
      "min": 1,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "string"
      } ]
    }, {
      "id": "Observation.component:gene-fusion",
      "max": "1",
      "min": 0,
      "path": "Observation.component",
      "short": "Gene fusion transcript details in Blood or Tissue by Molecular genetics method Narrative",
      "sliceName": "gene-fusion",
      "mustSupport": true
    }, {
      "id": "Observation.component:gene-fusion.code",
      "path": "Observation.component.code",
      "patternCodeableConcept": {
        "coding": [ {
          "code": "95123-6",
          "system": "http://loinc.org"
        } ]
      }
    }, {
      "id": "Observation.component:gene-fusion.value[x]",
      "min": 1,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      } ],
      "short": "HGNC recommends for products of gene translocations or fusions (format GENESYMBOL1::GENESYMBOL2) and readthrough transcripts (format GENESYMBOL1-GENESYMBOL2)",
      "binding": {
        "strength": "extensible",
        "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
      }
    }, {
      "id": "Observation.component:detection-limit",
      "max": "1",
      "min": 0,
      "path": "Observation.component",
      "short": "Laboratory device Detection limit",
      "sliceName": "detection-limit",
      "mustSupport": true
    }, {
      "id": "Observation.component:detection-limit.code",
      "path": "Observation.component.code",
      "patternCodeableConcept": {
        "coding": [ {
          "code": "87706-8",
          "system": "http://loinc.org"
        } ]
      }
    }, {
      "id": "Observation.component:detection-limit.value[x]",
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "Quantity"
      } ],
      "short": "Usually reported as percentage."
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
}