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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-nbs-acylcarnitine-dbs",
  "meta": {
    "profile": [
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      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
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    },
    {
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    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "computable"
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      "valueCodeableConcept": {
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            "code": "package",
            "display": "Package"
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        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
      "valueDate": "2026-09-02"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
      "valueCodeableConcept": {
        "coding": [
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      "valueContactDetail": {
        "telecom": [
          {
            "system": "email",
            "value": "thomas.debertshaeuser@charite.de"
          }
        ]
      }
    },
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      "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"
          }
        ]
      }
    },
    {
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      "valueContactDetail": {
        "name": "Interoperability Working Group",
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        ]
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    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
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            "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-acylcarnitine-dbs",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_NBS_Acylcarnitine_DBS",
  "title": "MII VS Seltene Erkrankungen NBS Acylcarnitine (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": "Acylcarnitin- und Carnitin-Analyte in Trockenblut (dried blood spot) — die Messgrößen des MS/MS-Acylcarnitinprofils im Neugeborenenscreening (Fettsäureoxidationsstörungen, Organoazidopathien, Carnitinzyklusdefekte). Abgeleitet aus der LOINC-SNOMED-Ontologie und deshalb NICHT vollständig gegenüber LOINC: enthalten ist der nach SNOMED gemappte Teil. Für die lückenlose Menge siehe mii-vs-seltene-nbs-dbs-all.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://loinc.org",
        "concept": [
          {
            "code": "50102-3",
            "display": "3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS"
          },
          {
            "code": "53189-7",
            "display": "3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS"
          },
          {
            "code": "53173-1",
            "display": "3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS"
          },
          {
            "code": "50106-4",
            "display": "3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS"
          },
          {
            "code": "53171-5",
            "display": "3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS"
          },
          {
            "code": "53172-3",
            "display": "3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS"
          },
          {
            "code": "50109-8",
            "display": "3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS"
          },
          {
            "code": "50113-0",
            "display": "3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS"
          },
          {
            "code": "50121-3",
            "display": "3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS"
          },
          {
            "code": "50125-4",
            "display": "3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS"
          },
          {
            "code": "53201-0",
            "display": "3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS"
          },
          {
            "code": "50132-0",
            "display": "3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS"
          },
          {
            "code": "53196-2",
            "display": "3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS"
          },
          {
            "code": "50281-5",
            "display": "3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS"
          },
          {
            "code": "53197-0",
            "display": "3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS"
          },
          {
            "code": "50157-7",
            "display": "Acetylcarnitine (C2) [Moles/volume] in DBS"
          },
          {
            "code": "53237-4",
            "display": "Acrylylcarnitine (C3:1) [Moles/volume] in DBS"
          },
          {
            "code": "38474-3",
            "display": "Acylcarnitine [Moles/volume] in DBS"
          },
          {
            "code": "43717-8",
            "display": "Acylcarnitine [Presence] in DBS"
          },
          {
            "code": "74628-9",
            "display": "Adipoylcarnitine (C6-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53613-6",
            "display": "Benzoylcarnitine (BzCn) [Moles/volume] in DBS"
          },
          {
            "code": "53065-9",
            "display": "Butyrylcarnitine (C4) [Moles/volume] in DBS"
          },
          {
            "code": "53180-6",
            "display": "Decadienoylcarnitine (C10:2) [Moles/volume] in DBS"
          },
          {
            "code": "45197-1",
            "display": "Decanoylcarnitine (C10) [Moles/volume] in DBS"
          },
          {
            "code": "45198-9",
            "display": "Decenoylcarnitine (C10:1) [Moles/volume] in DBS"
          },
          {
            "code": "53214-3",
            "display": "Dicarboxydodecanoylcarnitine (C12-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53213-5",
            "display": "Dicarboxydodecenoylcarnitine (C12:1-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53218-4",
            "display": "Dicarboxypalmitoylcarnitine (C16-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53220-0",
            "display": "Dicarboxystearoylcarnitine (C18-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53219-2",
            "display": "Dicarboxyoleylcarnitine (C18:1-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53216-8",
            "display": "Dicarboxytetradecanoylcarnitine (C14-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53215-0",
            "display": "Dicarboxytetradecenoylcarnitine (C14:1-DC) [Moles/volume] in DBS"
          },
          {
            "code": "45199-7",
            "display": "Dodecanoylcarnitine (C12) [Moles/volume] in DBS"
          },
          {
            "code": "45200-3",
            "display": "Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS"
          },
          {
            "code": "53462-8",
            "display": "Eicosanoylcarnitine (C20) [Moles/volume] in DBS"
          },
          {
            "code": "45207-8",
            "display": "Glutarylcarnitine (C5-DC) [Moles/volume] in DBS"
          },
          {
            "code": "88016-1",
            "display": "Glutarylcarnitine (C5-DC)/Acetylcarnitine (C2) [Molar ratio] in DBS"
          },
          {
            "code": "75225-3",
            "display": "Glutarylcarnitine (C5-DC)/Carnitine (C0) [Molar ratio] in DBS"
          },
          {
            "code": "75216-2",
            "display": "Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS"
          },
          {
            "code": "75267-5",
            "display": "Glutarylcarnitine (C5-DC)/Palmitoylcarnitine (C16) [Molar ratio] in DBS"
          },
          {
            "code": "88017-9",
            "display": "Glutarylcarnitine (C5-DC)/Propionylcarnitine (C3) [Molar ratio] in DBS"
          },
          {
            "code": "53204-4",
            "display": "Heptanoylcarnitine (C7) [Moles/volume] in DBS"
          },
          {
            "code": "45211-0",
            "display": "Hexanoylcarnitine (C6) [Moles/volume] in DBS"
          },
          {
            "code": "45213-6",
            "display": "Isobutyrylcarnitine (C4) [Moles/volume] in DBS"
          },
          {
            "code": "42920-9",
            "display": "Isovalerylcarnitine (C5) [Moles/volume] in DBS"
          },
          {
            "code": "45217-7",
            "display": "Linoleoylcarnitine (C18:2) [Moles/volume] in DBS"
          },
          {
            "code": "54462-7",
            "display": "Malonylcarnitine (C3-DC) [Moles/volume] in DBS"
          },
          {
            "code": "75212-1",
            "display": "Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS"
          },
          {
            "code": "45222-7",
            "display": "Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53181-4",
            "display": "Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS"
          },
          {
            "code": "53207-7",
            "display": "Nonanoylcarnitine (C9) [Moles/volume] in DBS"
          },
          {
            "code": "53175-6",
            "display": "Octanoylcarnitine (C8) [Moles/volume] in DBS"
          },
          {
            "code": "53176-4",
            "display": "Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS"
          },
          {
            "code": "53177-2",
            "display": "Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS"
          },
          {
            "code": "88014-6",
            "display": "Octanoylcarnitine (C8)/Carnitine.free (C0) [Molar ratio] in DBS"
          },
          {
            "code": "53174-9",
            "display": "Octenoylcarnitine (C8:1) [Moles/volume] in DBS"
          },
          {
            "code": "53202-8",
            "display": "Oleoylcarnitine (C18:1) [Moles/volume] in DBS"
          },
          {
            "code": "53199-6",
            "display": "Palmitoylcarnitine (C16) [Moles/volume] in DBS"
          },
          {
            "code": "88015-3",
            "display": "Palmitoylcarnitine (C16)/Acetylcarnitine (C2) [Molar ratio] in DBS"
          },
          {
            "code": "88024-5",
            "display": "Palmitoylcarnitine (C16)/Carnitine.free (C0) [Molar ratio] in DBS"
          },
          {
            "code": "54475-9",
            "display": "Pimeloylcarnitine (C7-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53160-8",
            "display": "Propionylcarnitine (C3) [Moles/volume] in DBS"
          },
          {
            "code": "53163-2",
            "display": "Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS"
          },
          {
            "code": "53162-4",
            "display": "Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS"
          },
          {
            "code": "53164-0",
            "display": "Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS"
          },
          {
            "code": "53161-6",
            "display": "Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS"
          },
          {
            "code": "53241-6",
            "display": "Stearoylcarnitine (C18) [Moles/volume] in DBS"
          },
          {
            "code": "53400-8",
            "display": "Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS"
          },
          {
            "code": "53210-1",
            "display": "Suberylcarnitine (C8-DC) [Moles/volume] in DBS"
          },
          {
            "code": "53190-5",
            "display": "Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS"
          },
          {
            "code": "53192-1",
            "display": "Tetradecanoylcarnitine (C14) [Moles/volume] in DBS"
          },
          {
            "code": "53191-3",
            "display": "Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS"
          },
          {
            "code": "53193-9",
            "display": "Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS"
          },
          {
            "code": "53194-7",
            "display": "Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS"
          },
          {
            "code": "88025-2",
            "display": "Tetradecenoylcarnitine (C14:1)/Carnitine.free (C0) [Molar ratio] in DBS"
          },
          {
            "code": "53195-4",
            "display": "Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS"
          },
          {
            "code": "70159-9",
            "display": "Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS"
          },
          {
            "code": "53170-7",
            "display": "Tiglylcarnitine (C5:1) [Moles/volume] in DBS"
          }
        ]
      }
    ]
  }
}