{
  "description": "Dieses Profil beschreibt die Feststellung eines bestimmten Genotyps auf der Grundlage einer oder mehrerer Varianten oder Haplotypen.",
  "_filename": "StructureDefinition-mii-pr-molgen-genotyp.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MolGen_Genotyp",
  "mapping": [ {
    "name": "MII KDS Mapping",
    "identity": "MII-KDS"
  } ],
  "abstract": false,
  "type": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR MolGen Genotyp",
  "package_version": "2025.0.0-alpha1",
  "status": "active",
  "id": "aa386536-a015-4eb3-b212-514c828aba98",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp",
  "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.value[x]",
      "path": "Observation.value[x]",
      "mustSupport": true
    }, {
      "id": "Observation.derivedFrom",
      "path": "Observation.derivedFrom",
      "mustSupport": true
    }, {
      "id": "Observation.component",
      "path": "Observation.component",
      "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",
      "mapping": [ {
        "map": "mide-dataelement-1434",
        "comment": "Zytogenetische Lokalisierung (Lokus)",
        "identity": "MII-KDS"
      } ],
      "sliceName": "cytogenetic-location",
      "mustSupport": true
    }, {
      "id": "Observation.component:reference-sequence-assembly",
      "path": "Observation.component",
      "mapping": [ {
        "map": "mide-dataelement-1788",
        "comment": "Referenzgenom",
        "identity": "MII-KDS"
      } ],
      "sliceName": "reference-sequence-assembly",
      "mustSupport": true
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
}