{
  "description": "Dieses Profil beschreibt die Region oder die Regionen, die im Rahmen dieses Befundberichts untersucht wurden.",
  "_filename": "StructureDefinition-mii-pr-molgen-untersuchte-region.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MolGen_UntersuchteRegion",
  "mapping": [ {
    "name": "MII KDS Mapping",
    "identity": "MII-KDS"
  } ],
  "abstract": false,
  "type": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR MolGen Untersuchte Region",
  "package_version": "2025.0.0-alpha1",
  "status": "active",
  "id": "4a9a8f85-a7c8-427f-b0e6-c957a5470e33",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
  "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.encounter",
      "path": "Observation.encounter",
      "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:gene-mutations",
      "path": "Observation.component",
      "sliceName": "gene-mutations",
      "mustSupport": true
    }, {
      "id": "Observation.component:region-description",
      "path": "Observation.component",
      "sliceName": "region-description",
      "mustSupport": true
    }, {
      "id": "Observation.component:region-coverage",
      "path": "Observation.component",
      "mapping": [ {
        "map": "mide-dataelement-1407",
        "comment": "Read depth/Coverage",
        "identity": "MII-KDS"
      } ],
      "sliceName": "region-coverage",
      "mustSupport": true
    }, {
      "id": "Observation.component:ranges-examined",
      "path": "Observation.component",
      "sliceName": "ranges-examined",
      "mustSupport": true
    }, {
      "id": "Observation.component:genomic-ref-seq",
      "path": "Observation.component",
      "mapping": [ {
        "map": "mide-dataelement-1405",
        "comment": "Referenzsequenz",
        "identity": "MII-KDS"
      } ],
      "sliceName": "genomic-ref-seq",
      "mustSupport": true
    }, {
      "id": "Observation.component:uncallable-regions",
      "path": "Observation.component",
      "sliceName": "uncallable-regions",
      "mustSupport": true
    }, {
      "id": "Observation.component:transcript-ref-seq",
      "max": "1",
      "min": 0,
      "path": "Observation.component",
      "short": "Reference Transcript",
      "sliceName": "transcript-ref-seq",
      "definition": "NCBI's RefSeq ('NM_...'), Ensembl ('ENST...'), and LRG ('LRG...' plus 't1' to indicate transcript)",
      "mustSupport": true
    }, {
      "id": "Observation.component:transcript-ref-seq.code",
      "path": "Observation.component.code",
      "short": "51958-7",
      "patternCodeableConcept": {
        "coding": [ {
          "code": "51958-7",
          "system": "http://loinc.org"
        } ]
      }
    }, {
      "id": "Observation.component:transcript-ref-seq.value[x]",
      "min": 1,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      } ],
      "short": "Versioned transcript reference sequence identifier",
      "binding": {
        "strength": "example",
        "description": "Multiple bindings acceptable (NCBI or LRG)"
      }
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
}