{ "resourceType" : "ValueSet", "id" : "mii-vs-onko-praedispositionsgene-hgnc", "meta" : { "extension" : [{ "url" : "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-license", "valueCode" : "CC-BY-4.0" }, { "extension" : [{ "url" : "packageId", "valueId" : "de.medizininformatikinitiative.kerndatensatz.onkologie" }, { "url" : "version", "valueString" : "2027.0.0-ballot.1" }, { "url" : "uri", "valueUri" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko" }], "url" : "http://hl7.org/fhir/StructureDefinition/package-source" }], "profile" : ["http://hl7.org/fhir/StructureDefinition/shareablevalueset", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-computablevalueset"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

English

Generated Narrative: ValueSet mii-vs-onko-praedispositionsgene-hgnc

Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet

" }, "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" : "2026-09-15" }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-topic", "valueCodeableConcept" : { "coding" : [{ "system" : "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl", "code" : "C3262" }] } }, { "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" : "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm", "valueCoding" : { "system" : "http://hl7.org/fhir/version-algorithm", "code" : "semver", "display" : "SemVer" } }, { "url" : "http://hl7.org/fhir/StructureDefinition/resource-effectivePeriod", "valuePeriod" : { "start" : "2027" } }], "url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-praedispositionsgene-hgnc", "version" : "2027.0.0-ballot.1", "name" : "MII_VS_Onko_Praedispositionsgene_HGNC", "title" : "MII VS Onkologie Krebsprädispositionsgene HGNC", "status" : "active", "experimental" : false, "date" : "2026-09-15T06:26:59+00:00", "publisher" : "Medizininformatik Initiative", "contact" : [{ "name" : "Medizininformatik Initiative", "telecom" : [{ "system" : "url", "value" : "https://www.medizininformatik-initiative.de/" }] }], "description" : "Krebsprädispositionsgene der §65c-Liste (Manual Plus, Krebsprädispositionssyndrom und -gen) als HGNC-Gen-IDs, inkl. Expansion der Sammel-Einträge (FANCA-FANCW, IDH1/2, XP-Komplementationsgruppen). Begleitartefakt ohne Profil-Binding (Andockung an die genetischen Profile folgt mit dem Konzept für genetische Marker). Zytogenetische Aberrationen der Quell-Liste (11p13/11p15, Trisomien, ETV-RUNX1-Fusion) sind keine Gene und hier nicht enthalten. Projektseitige Code-Auflösung ohne Gewähr; fachliche Prüfung vor Produktivnutzung erforderlich.", "jurisdiction" : [{ "coding" : [{ "system" : "urn:iso:std:iso:3166", "code" : "DE", "display" : "Germany" }] }], "compose" : { "include" : [{ "system" : "http://www.genenames.org/geneId", "concept" : [{ "code" : "HGNC:427", "display" : "ALK" }, { "code" : "HGNC:26837", "display" : "AMER1" }, { "code" : "HGNC:583", "display" : "APC" }, { "code" : "HGNC:18318", "display" : "ASXL1" }, { "code" : "HGNC:795", "display" : "ATM" }, { "code" : "HGNC:1058", "display" : "BLM" }, { "code" : "HGNC:1076", "display" : "BMPR1A" }, { "code" : "HGNC:1097", "display" : "BRAF" }, { "code" : "HGNC:1100", "display" : "BRCA1" }, { "code" : "HGNC:1101", "display" : "BRCA2" }, { "code" : "HGNC:20473", "display" : "BRIP1" }, { "code" : "HGNC:1149", "display" : "BUB1B" }, { "code" : "HGNC:1541", "display" : "CBL" }, { "code" : "HGNC:1833", "display" : "CEBPA" }, { "code" : "HGNC:30794", "display" : "CEP57" }, { 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