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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-nbs-enzyme-activity-dbs",
  "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-nbs-enzyme-activity-dbs",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_NBS_EnzymeActivity_DBS",
  "title": "MII VS Seltene Erkrankungen NBS Enzymaktivitäten (Trockenblut)",
  "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": "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.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "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"
          }
        ]
      }
    ]
  }
}