{
"description": "Value set for qualitative descriptions of genetic penetrance, drawn from the HPO branch Inheritance qualifier (HP:0034335). Note that the graded terms (high/moderate/low penetrance) are subtypes of incomplete penetrance, not alternatives to complete penetrance.",
"compose": {
"include": [ {
"system": "http://human-phenotype-ontology.org",
"concept": [ {
"code": "HP:0034950",
"display": "Typified by complete penetrance"
}, {
"code": "HP:0003829",
"display": "Typified by incomplete penetrance"
}, {
"code": "HP:4000158",
"display": "Typified by high penetrance"
}, {
"code": "HP:4000159",
"display": "Typified by moderate penetrance"
}, {
"code": "HP:4000160",
"display": "Typified by low penetrance"
}, {
"code": "HP:0003831",
"display": "Typified by age-related disease onset"
} ]
} ]
},
"_filename": "ValueSet-mii-vs-seltene-penetrance.json",
"package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
"date": "2026-09-14T21:59:44+00:00",
"meta": {
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},
"publisher": "Medizininformatik Initiative",
"jurisdiction": [ {
"coding": [ {
"code": "DE",
"system": "urn:iso:std:iso:3166",
"display": "Germany"
} ]
} ],
"_publisher": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de"
}, {
"url": "content",
"valueString": "Medizininformatik Initiative"
} ]
} ]
},
"name": "MII_VS_Seltene_Penetrance",
"type": null,
"experimental": "false",
"resourceType": "ValueSet",
"title": "MII VS SE Penetrance",
"package_version": "2027.0.0-ballot",
"extension": [ {
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"valueCode": "shareable"
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"valueCode": "publishable"
}, {
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"valueCode": "computable"
}, {
"url": "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy",
"valueCodeableConcept": {
"coding": [ {
"code": "package",
"system": "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes",
"display": "Package"
} ]
}
}, {
"url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
"valueDate": "2026-09-02"
}, {
"url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
"valueCodeableConcept": {
"coding": [ {
"code": "C4873",
"system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"
} ]
}
}, {
"url": "http://hl7.org/fhir/StructureDefinition/artifact-author",
"valueContactDetail": {
"telecom": [ {
"value": "thomas.debertshaeuser@charite.de",
"system": "email"
} ]
}
}, {
"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": [ {
"value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group",
"system": "url"
} ]
}
}, {
"url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
"valueContactDetail": {
"name": "National Steering Committee",
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee",
"system": "url"
} ]
}
}, {
"url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail": {
"name": "Interoperability Working Group",
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group",
"system": "url"
} ]
}
}, {
"url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail": {
"name": "National Steering Committee",
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee",
"system": "url"
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}
} ],
"status": "active",
"id": "29cfe4c7-95ab-4b36-97ae-63cb66bb13c1",
"kind": null,
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-penetrance",
"version": "2027.0.0-ballot",
"contact": [ {
"name": "Medizininformatik Initiative",
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de/",
"system": "url"
} ]
} ]
}