{
  "description": "Profile for clinical diagnosis of rare diseases with HPO phenotype codes. This profile is used for clinically diagnosed rare diseases based on phenotypic presentation.",
  "_filename": "StructureDefinition-mii-pr-seltene-clinical-diagnosis.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_Seltene_ClinicalDiagnosis",
  "mapping": [ {
    "uri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/LogicalModel/Seltene",
    "name": "Mapping FHIR zu Seltene Erkrankungen Logical Model",
    "identity": "SE-LogicalModel"
  } ],
  "abstract": false,
  "type": "Condition",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR SE Clinical Diagnosis",
  "package_version": "2026.0.0-ballot",
  "extension": [ {
    "url": "https://www.medizininformatik-initiative.de/fhir/modul-meta/StructureDefinition/mii-ex-meta-license-codeable",
    "valueCodeableConcept": {
      "coding": [ {
        "code": "CC-BY-4.0",
        "system": "http://hl7.org/fhir/spdx-license",
        "display": "Creative Commons Attribution 4.0 International"
      } ]
    }
  } ],
  "status": "draft",
  "id": "1163204b-12e6-48f3-a6aa-11326159eeff",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis",
  "version": "2026.0.0-ballot",
  "differential": {
    "element": [ {
      "id": "Condition",
      "path": "Condition",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.KlinischeDiagnose",
        "comment": "Klinische Diagnose",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Condition.extension:Feststellungsdatum",
      "path": "Condition.extension",
      "sliceName": "Feststellungsdatum"
    }, {
      "id": "Condition.extension:Feststellungsdatum.value[x]",
      "path": "Condition.extension.value[x]",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.KlinischeDiagnose.FeststellungsdatumKlinischeDia",
        "comment": "Feststellungsdatum klinische SE-Diagnose",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Condition.category",
      "min": 1,
      "path": "Condition.category",
      "mustSupport": true
    }, {
      "id": "Condition.severity",
      "path": "Condition.severity",
      "mustSupport": true
    }, {
      "id": "Condition.code.coding:icd10-gm",
      "path": "Condition.code.coding",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.KlinischeDiagnose",
        "comment": "ICD-10-GM Diagnose",
        "identity": "SE-LogicalModel"
      } ],
      "sliceName": "icd10-gm"
    }, {
      "id": "Condition.code.coding:orphanet",
      "path": "Condition.code.coding",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.KlinischeDiagnose",
        "comment": "Orpha-Code Diagnose",
        "identity": "SE-LogicalModel"
      } ],
      "sliceName": "orphanet"
    }, {
      "path": "Condition.code.coding",
      "min": 0,
      "definition": "Human Phenotype Ontology code describing the phenotypic manifestation of the rare disease",
      "short": "HPO Phenotype code",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm",
        "comment": "HPO-Term des Symptoms",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true,
      "sliceName": "hpo",
      "binding": {
        "strength": "required",
        "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes"
      },
      "max": "*",
      "id": "Condition.code.coding:hpo",
      "comment": "For rare diseases, HPO codes should be provided to describe the phenotypic presentation",
      "patternCoding": {
        "system": "http://human-phenotype-ontology.org"
      }
    }, {
      "id": "Condition.code.coding:hpo.system",
      "min": 1,
      "path": "Condition.code.coding.system",
      "mustSupport": true
    }, {
      "id": "Condition.code.coding:hpo.code",
      "min": 1,
      "path": "Condition.code.coding.code",
      "mustSupport": true
    }, {
      "id": "Condition.code.coding:hpo.display",
      "path": "Condition.code.coding.display",
      "mustSupport": true
    }, {
      "id": "Condition.subject",
      "path": "Condition.subject",
      "mapping": [ {
        "map": "Patient",
        "comment": "Patient/Indexpatient",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Condition.encounter",
      "path": "Condition.encounter",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Untersuchungsdatum",
        "comment": "Untersuchungsdatum",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Condition.onset[x]",
      "path": "Condition.onset[x]",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.KlinischeDiagnose.AlterKlinischeDia",
        "comment": "Alter/Zeitpunkt bei klinischer SE-Diagnose",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Condition.onset[x]:onsetDateTime",
      "path": "Condition.onset[x]",
      "type": [ {
        "code": "dateTime"
      } ],
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.KlinischeDiagnose.FeststellungsdatumKlinischeDia",
        "comment": "Feststellungsdatum klinische SE-Diagnose",
        "identity": "SE-LogicalModel"
      } ],
      "sliceName": "onsetDateTime"
    }, {
      "id": "Condition.abatement[x]",
      "path": "Condition.abatement[x]",
      "mustSupport": true
    }, {
      "id": "Condition.recorder",
      "path": "Condition.recorder",
      "mustSupport": true
    }, {
      "id": "Condition.asserter",
      "path": "Condition.asserter",
      "mustSupport": true
    }, {
      "id": "Condition.stage",
      "path": "Condition.stage",
      "mustSupport": true
    }, {
      "id": "Condition.stage.assessment",
      "path": "Condition.stage.assessment",
      "short": "Reference to HPO-based severity assessment",
      "mustSupport": true
    }, {
      "id": "Condition.stage.type",
      "path": "Condition.stage.type",
      "short": "Stage type (e.g., severity, progression)",
      "mustSupport": true
    }, {
      "id": "Condition.evidence",
      "path": "Condition.evidence",
      "mustSupport": true
    }, {
      "id": "Condition.evidence.code",
      "path": "Condition.evidence.code",
      "short": "Manifestation/symptom supporting the diagnosis",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm",
        "comment": "Unterstützende HPO-Symptome",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true
    }, {
      "id": "Condition.evidence.code.coding",
      "path": "Condition.evidence.code.coding",
      "binding": {
        "strength": "extensible",
        "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes"
      }
    }, {
      "id": "Condition.evidence.detail",
      "path": "Condition.evidence.detail",
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Observation" ]
      } ],
      "short": "Reference to Observation resources containing HPO-coded symptoms",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung",
        "comment": "Verweis auf Phänotypisierung",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose"
}