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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-nbs-target-analyte",
  "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",
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    },
    {
      "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",
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            "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
          }
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      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
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            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
          }
        ]
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    }
  ],
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-target-analyte",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_NBS_TargetAnalyte",
  "title": "MII VS Seltene Erkrankungen NBS Leitanalyten der Zielkrankheiten",
  "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": "Leitanalyten der Zielkrankheiten des deutschen Neugeborenenscreenings nach G-BA Kinder-Richtlinie § 17 Abs. 1 (20 Zielkrankheiten) und 23 ff. (Mukoviszidose). Je Zielkrankheit der Analyt, über den sie im Screening erkannt wird.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://loinc.org",
        "concept": [
          {
            "code": "29575-8",
            "display": "Thyrotropin [Units/volume] in DBS"
          },
          {
            "code": "38473-5",
            "display": "17-Hydroxyprogesterone [Mass/volume] in DBS"
          },
          {
            "code": "75217-0",
            "display": "Biotinidase [Enzymatic activity/volume] in DBS"
          },
          {
            "code": "54084-9",
            "display": "Galactose [Mass/volume] in DBS"
          },
          {
            "code": "29573-3",
            "display": "Phenylalanine [Moles/volume] in DBS"
          },
          {
            "code": "47679-6",
            "display": "Leucine [Moles/volume] in DBS"
          },
          {
            "code": "53175-6",
            "display": "Octanoylcarnitine (C8) [Moles/volume] in DBS"
          },
          {
            "code": "50125-4",
            "display": "3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS"
          },
          {
            "code": "53191-3",
            "display": "Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS"
          },
          {
            "code": "38481-8",
            "display": "Carnitine free (C0) [Moles/volume] in DBS"
          },
          {
            "code": "53199-6",
            "display": "Palmitoylcarnitine (C16) [Moles/volume] in DBS"
          },
          {
            "code": "53235-8",
            "display": "Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS"
          },
          {
            "code": "45207-8",
            "display": "Glutarylcarnitine (C5-DC) [Moles/volume] in DBS"
          },
          {
            "code": "42920-9",
            "display": "Isovalerylcarnitine (C5) [Moles/volume] in DBS"
          },
          {
            "code": "53231-7",
            "display": "Succinylacetone [Moles/volume] in DBS"
          },
          {
            "code": "62320-7",
            "display": "T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection"
          },
          {
            "code": "54081-5",
            "display": "Hemoglobinopathies newborn screening panel"
          },
          {
            "code": "92002-5",
            "display": "SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection"
          },
          {
            "code": "53160-8",
            "display": "Propionylcarnitine (C3) [Moles/volume] in DBS"
          },
          {
            "code": "47700-0",
            "display": "Methionine [Moles/volume] in DBS"
          },
          {
            "code": "48633-2",
            "display": "Trypsinogen I Free [Mass/volume] in DBS"
          }
        ]
      }
    ]
  }
}