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.
package_name: de.medizininformatikinitiative.kerndatensatz.seltene
derivation: constraint
name: MII_PR_Seltene_HPO_Assessment
type: Observation
elements:
  derivedFrom: {short: Verwandte Beobachtungen oder Bewertungen, mustSupport: true, index: 22}
  encounter: {short: 'Gesundheitskontakt, bei dem der Phänotyp beobachtet wurde', mustSupport: true, index: 4}
  method:
    short: Methode zur Beobachtung oder Bewertung des Phänotyps
    binding: {strength: extensible, valueSet: 'http://hl7.org/fhir/ValueSet/observation-methods'}
    mustSupport: true
    index: 21
  value:
    short: Not used - use component instead
    choices: []
    index: 18
  component:
    short: Phenotype status, severity, and clinical modifiers
    mustSupport: true
    index: 23
    slicing:
      rules: open
      discriminator:
      - {path: code, type: pattern}
      min: null
      slices:
        status:
          match:
            code:
              coding:
              - {code: '260411009', system: 'http://snomed.info/sct', display: Presence findings}
          schema:
            mustSupport: true
            index: 24
            elements:
              code:
                short: Phenotype status code
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: '260411009', system: 'http://snomed.info/sct', display: Presence findings}
                index: 25
              value:
                short: Present or Absent
                mustSupport: true
                choices: [valueCodeableConcept]
                index: 27
              valueCodeableConcept: {type: CodeableConcept, short: Present or Absent, mustSupport: true, choiceOf: value, index: 28}
              interpretation:
                short: Änderungsstatus des Symptoms/Phänotyps über Zeit
                binding: {strength: required, valueSet: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-symptom-change-status-combined'}
                mustSupport: true
                index: 29
                elements:
                  coding:
                    elements:
                      code: {index: 30}
        severity:
          match:
            code:
              coding:
              - {code: 'HP:0012824', system: 'http://human-phenotype-ontology.org', display: Severity}
          schema:
            mustSupport: true
            index: 31
            elements:
              code:
                short: Severity modifier
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 'HP:0012824', system: 'http://human-phenotype-ontology.org', display: Severity}
                index: 32
              value:
                short: Severity grade
                mustSupport: true
                choices: [valueCodeableConcept]
                index: 34
              valueCodeableConcept: {type: CodeableConcept, short: Severity grade, mustSupport: true, choiceOf: value, index: 35}
  note: {short: Zusätzliche klinische Anmerkungen zum Phänotyp, mustSupport: true, index: 19}
  effective[x]:
    elements:
      start: {index: 15}
      end: {index: 16}
  effectiveDateTime:
    type: dateTime
    choiceOf: effective
    index: 11
    slicing:
      slices:
        effectiveDateTime:
          match: {}
          schema: {type: dateTime, choiceOf: effective, index: 11}
          min: 0
          max: 1
  status: {mustSupport: true, index: 0}
  effective:
    choices: [effectivePeriod]
    index: 13
    slicing:
      slices:
        effectivePeriod:
          match: {}
          schema:
            choices: [effectivePeriod]
            index: 13
          min: 0
          max: 1
  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'}
    mustSupport: true
    index: 1
    elements:
      coding:
        elements:
          version: {index: 2}
  bodySite:
    short: Körperstelle, an der der Phänotyp beobachtet wird
    binding: {strength: extensible, valueSet: 'http://hl7.org/fhir/ValueSet/body-site'}
    mustSupport: true
    index: 20
  subject:
    type: Reference
    short: Patient mit der phänotypischen Anomalie
    mustSupport: true
    refers: ['http://hl7.org/fhir/StructureDefinition/Patient']
    index: 3
  effectivePeriod:
    type: Period
    choiceOf: effective
    index: 14
    slicing:
      slices:
        effectivePeriod:
          match: {}
          schema: {type: Period, choiceOf: effective, index: 14}
          min: 0
          max: 1
package_version: 2026.0.0
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-hpo-assessment
base: http://hl7.org/fhir/StructureDefinition/Observation
version: 2026.0.0
required: [subject]