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Packagede.medizininformatikinitiative.kerndatensatz.seltene
Resource TypeValueSet
IdValueSet-mii-vs-seltene-hpo-presence-status.json
FHIR VersionR4
Sourcehttps://medizininformatik-initiative.github.io/kerndatensatzmodul-seltene-erkrankungen/2027.0.0-ballot/ValueSet-mii-vs-seltene-hpo-presence-status.html
URLhttps://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-presence-status
Version2027.0.0-ballot
Statusactive
Date2026-09-14T21:59:44+00:00
NameMII_VS_Seltene_HPOPresenceStatus
TitleHPO Phenotype Presence Status
Realmde
DescriptionLOINC codes for indicating presence or absence of phenotypic features. Follows HL7 Phenomics IG pattern.
CopyrightThis value set includes content from LOINC which is copyrighted by Regenstrief Institute, Inc.

Resources that use this resource

StructureDefinition
de.medizininformatikinitiative.kerndatensatz.seltene#2027.0.0-ballotmii-pr-seltene-hpo-assessmentMII Profile SE HPO Assessment

Resources that this resource uses

CodeSystem
kl.dk.fhir.children#2.1.0loinc.orgLogical Observation Identifiers, Names and Codes (LOINC)

Narrative

Note: links and images are rebased to the (stated) source


English


Generated Narrative: ValueSet mii-vs-seltene-hpo-presence-status


German


Generated Narrative: ValueSet mii-vs-seltene-hpo-presence-status


Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-hpo-presence-status",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset",
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "shareable"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "publishable"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "computable"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes",
            "code": "package",
            "display": "Package"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
      "valueDate": "2026-09-02"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
            "code": "C4873"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-author",
      "valueContactDetail": {
        "telecom": [
          {
            "system": "email",
            "value": "thomas.debertshaeuser@charite.de"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-editor",
      "valueContactDetail": {
        "name": "Taskforce Core Data Set"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
      "valueContactDetail": {
        "name": "Interoperability Working Group",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "Interoperability Working Group",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
          }
        ]
      }
    }
  ],
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-presence-status",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_HPOPresenceStatus",
  "title": "HPO Phenotype Presence Status",
  "status": "active",
  "experimental": false,
  "date": "2026-09-14T21:59:44+00:00",
  "publisher": "Medizininformatik Initiative",
  "_publisher": {
    "extension": [
      {
        "extension": [
          {
            "url": "lang",
            "valueCode": "de"
          },
          {
            "url": "content",
            "valueString": "Medizininformatik Initiative"
          }
        ],
        "url": "http://hl7.org/fhir/StructureDefinition/translation"
      }
    ]
  },
  "contact": [
    {
      "name": "Medizininformatik Initiative",
      "telecom": [
        {
          "system": "url",
          "value": "https://www.medizininformatik-initiative.de/"
        }
      ]
    }
  ],
  "description": "LOINC codes for indicating presence or absence of phenotypic features. Follows HL7 Phenomics IG pattern.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "copyright": "This value set includes content from LOINC which is copyrighted by Regenstrief Institute, Inc.",
  "compose": {
    "include": [
      {
        "system": "http://loinc.org",
        "concept": [
          {
            "code": "LA9633-4",
            "display": "Present"
          },
          {
            "code": "LA9634-2",
            "display": "Absent"
          }
        ]
      }
    ]
  }
}