PackagesCanonicalsLogsProblems
    Packages
    de.medizininformatikinitiative.kerndatensatz.seltene@2027.0.0-ballot
    https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-enzyme-activity-dbs
{
  "description": "Enzymaktivitäten (katalytische Konzentration), die in Trockenblut bestimmt werden — u. a. Biotinidase und Galaktose-Enzyme des deutschen Neugeborenenscreenings sowie die Enzyme lysosomaler Speicherkrankheiten, die international gescreent werden.",
  "compose": {
    "include": [ {
      "system": "http://loinc.org",
      "concept": [ {
        "code": "55909-6",
        "display": "Alpha-L-iduronidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "79455-2",
        "display": "Alpha-N-acetylgalactosaminidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "88019-5",
        "display": "N-Acetylgalactosamine-6-Sulfatase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "79463-6",
        "display": "N-Acetylgalactosamine-4-Sulfatase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "75094-3",
        "display": "Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS --post therapeutic diet"
      }, {
        "code": "42906-8",
        "display": "Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "55827-0",
        "display": "Acid alpha glucosidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "62316-5",
        "display": "Acid sphingomyelinase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "75052-1",
        "display": "Adenosine deaminase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "96586-3",
        "display": "Alanine aminotransferase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "79454-5",
        "display": "Alpha fucosidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "104114-4",
        "display": "Alpha-N-acetylglucosaminidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "55908-8",
        "display": "Alpha galactosidase A [Enzymatic activity/volume] in DBS"
      }, {
        "code": "55910-4",
        "display": "Alpha mannosidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "55912-0",
        "display": "Arylsulfatase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "96587-1",
        "display": "Aspartate aminotransferase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "79458-6",
        "display": "Beta-N-acetylhexosaminidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "55916-1",
        "display": "Beta galactosidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "79457-8",
        "display": "Beta glucuronidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "80425-2",
        "display": "Beta-N-acetylhexosaminidase.A [Enzymatic activity/volume] in DBS"
      }, {
        "code": "75217-0",
        "display": "Biotinidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "111824-9",
        "display": "Cerebroside sulfatase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "55836-1",
        "display": "Chitotriosidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "73958-1",
        "display": "Cholesterol esterase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "107446-7",
        "display": "Creatine kinase.MM [Enzymatic activity/volume] in DBS"
      }, {
        "code": "62310-8",
        "display": "Galactosylceramidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "96593-9",
        "display": "Gamma glutamyl transferase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "55917-9",
        "display": "Glucosylceramidase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "104113-6",
        "display": "Heparan-N-sulfatase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "79462-8",
        "display": "Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "59246-9",
        "display": "Palmitoyl protein thioesterase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "79467-7",
        "display": "Purine nucleoside phosphorylase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "75058-8",
        "display": "Thymidine phosphorylase [Enzymatic activity/volume] in DBS"
      }, {
        "code": "72498-9",
        "display": "Tripeptidyl peptidase I [Enzymatic activity/volume] in DBS"
      } ]
    } ]
  },
  "_filename": "ValueSet-mii-vs-seltene-nbs-enzyme-activity-dbs.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
  "date": "2026-09-14T21:59:44+00:00",
  "meta": {
    "profile": [ "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset" ]
  },
  "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_NBS_EnzymeActivity_DBS",
  "type": null,
  "experimental": "false",
  "resourceType": "ValueSet",
  "title": "MII VS Seltene Erkrankungen NBS Enzymaktivitäten (Trockenblut)",
  "package_version": "2027.0.0-ballot",
  "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": [ {
        "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"
      } ]
    }
  } ],
  "status": "active",
  "id": "f79744f1-3a20-4022-83ae-fdd145fb9b43",
  "kind": null,
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-enzyme-activity-dbs",
  "version": "2027.0.0-ballot",
  "contact": [ {
    "name": "Medizininformatik Initiative",
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de/",
      "system": "url"
    } ]
  } ]
}