{
  "description": "Profile for HPO-based phenotypic observations in the context of rare diseases. This profile uses the Human Phenotype Ontology (HPO) to describe clinical symptoms and phenotypic abnormalities.",
  "_filename": "StructureDefinition-mii-pr-seltene-hpo-assessment.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_Seltene_HPO_Assessment",
  "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": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII Profile SE HPO Assessment",
  "package_version": "2026.0.0-ballot",
  "status": "draft",
  "id": "2a61346d-0e31-47ff-ba3a-cd1f8489fb6c",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-hpo-assessment",
  "version": "2026.0.0-ballot",
  "differential": {
    "element": [ {
      "id": "Observation",
      "path": "Observation",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung",
        "comment": "Phänotypisierung",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Observation.status",
      "path": "Observation.status",
      "mustSupport": true
    }, {
      "id": "Observation.code",
      "path": "Observation.code",
      "short": "HPO-phänotypischer Beobachtungscode",
      "binding": {
        "strength": "extensible",
        "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes"
      },
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm",
        "comment": "HPO-Term des Symptoms",
        "identity": "SE-LogicalModel"
      } ],
      "definition": "Code aus der Human Phenotype Ontology zur Beschreibung der phänotypischen Anomalie",
      "mustSupport": true
    }, {
      "id": "Observation.code.coding.version",
      "path": "Observation.code.coding.version",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOVersion",
        "comment": "Version HPO-Term",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Observation.subject",
      "min": 1,
      "path": "Observation.subject",
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient" ]
      } ],
      "short": "Patient mit der phänotypischen Anomalie",
      "mapping": [ {
        "map": "Patient",
        "comment": "Patient/Indexpatient",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true
    }, {
      "id": "Observation.encounter",
      "path": "Observation.encounter",
      "short": "Gesundheitskontakt, bei dem der Phänotyp beobachtet wurde",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Untersuchungsdatum",
        "comment": "Untersuchungsdatum",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true
    }, {
      "id": "Observation.effective[x]",
      "path": "Observation.effective[x]",
      "type": [ {
        "code": "dateTime"
      }, {
        "code": "Period"
      } ],
      "short": "Zeitpunkt der Phänotyp-Beobachtung oder Beobachtungszeitraum",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      },
      "mustSupport": true
    }, {
      "id": "Observation.effective[x]:effectiveDateTime",
      "max": "1",
      "min": 0,
      "path": "Observation.effective[x]",
      "type": [ {
        "code": "dateTime"
      } ],
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.ZeitraumSymptom",
        "comment": "Startdatum des Symptoms",
        "identity": "SE-LogicalModel"
      } ],
      "sliceName": "effectiveDateTime"
    }, {
      "id": "Observation.effective[x]:effectivePeriod",
      "max": "1",
      "min": 0,
      "path": "Observation.effective[x]",
      "type": [ {
        "code": "Period"
      } ],
      "sliceName": "effectivePeriod"
    }, {
      "id": "Observation.effective[x]:effectivePeriod.start",
      "path": "Observation.effective[x].start",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.ZeitraumSymptom",
        "comment": "Startdatum des Symptoms",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Observation.effective[x]:effectivePeriod.end",
      "path": "Observation.effective[x].end",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.ZeitraumSymptom",
        "comment": "Enddatum des Symptoms",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Observation.value[x]",
      "path": "Observation.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      }, {
        "code": "boolean"
      } ],
      "short": "Vorhandensein, Abwesenheit oder Schweregrad des Phänotyps",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      },
      "mustSupport": true
    }, {
      "id": "Observation.value[x]:valueCodeableConcept",
      "max": "1",
      "min": 0,
      "path": "Observation.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      } ],
      "short": "Schweregrad oder Ausprägung der phänotypischen Anomalie",
      "binding": {
        "strength": "extensible",
        "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-severity-values"
      },
      "sliceName": "valueCodeableConcept"
    }, {
      "id": "Observation.interpretation",
      "path": "Observation.interpretation",
      "short": "Interpretation und Änderungsstatus des HPO-Phänotyps",
      "slicing": {
        "rules": "open",
        "discriminator": [ {
          "path": "$this",
          "type": "pattern"
        } ]
      },
      "mustSupport": true
    }, {
      "path": "Observation.interpretation",
      "min": 0,
      "definition": "Standard HL7 Interpretation codes (z.B. High, Low, Normal)",
      "short": "HL7 Standard-Interpretation",
      "mustSupport": true,
      "sliceName": "hl7Interpretation",
      "binding": {
        "strength": "required",
        "valueSet": "http://hl7.org/fhir/ValueSet/observation-interpretation"
      },
      "max": "*",
      "id": "Observation.interpretation:hl7Interpretation"
    }, {
      "path": "Observation.interpretation",
      "min": 0,
      "definition": "Dokumentiert Änderungen des Phänotyps über Zeit gemäß Modellvorhaben Genomsequenzierung",
      "short": "Änderungsstatus des HPO-Phänotyps",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.VerlaufSymptom",
        "comment": "Verlauf Symptom",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true,
      "sliceName": "changeStatus",
      "binding": {
        "strength": "required",
        "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-change-status"
      },
      "max": "1",
      "id": "Observation.interpretation:changeStatus"
    }, {
      "id": "Observation.interpretation:changeStatus.coding.code",
      "path": "Observation.interpretation.coding.code",
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOStatus",
        "comment": "Status HPO-Term",
        "identity": "SE-LogicalModel"
      } ]
    }, {
      "id": "Observation.note",
      "path": "Observation.note",
      "short": "Zusätzliche klinische Anmerkungen zum Phänotyp",
      "mustSupport": true
    }, {
      "id": "Observation.bodySite",
      "path": "Observation.bodySite",
      "short": "Körperstelle, an der der Phänotyp beobachtet wird",
      "binding": {
        "strength": "extensible",
        "valueSet": "http://hl7.org/fhir/ValueSet/body-site"
      },
      "mustSupport": true
    }, {
      "id": "Observation.method",
      "path": "Observation.method",
      "short": "Methode zur Beobachtung oder Bewertung des Phänotyps",
      "binding": {
        "strength": "extensible",
        "valueSet": "http://hl7.org/fhir/ValueSet/observation-methods"
      },
      "mapping": [ {
        "map": "AnamneseUndDiagnostik.MethodeDiagnosestellung",
        "comment": "Methode der Diagnosestellung",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true
    }, {
      "id": "Observation.derivedFrom",
      "path": "Observation.derivedFrom",
      "short": "Verwandte Beobachtungen oder Bewertungen",
      "mapping": [ {
        "map": "Verweis auf zugrunde liegende Befunde",
        "comment": "Laborbefunde oder Bildgebung",
        "identity": "SE-LogicalModel"
      } ],
      "mustSupport": true
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Observation"
}