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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-nbs-ratio-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": [
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            "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": [
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            "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-ratio-dbs",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_NBS_Ratio_DBS",
  "title": "MII VS Seltene Erkrankungen NBS Quotienten (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": "Diagnostische Quotienten aus Trockenblut-Analyten. Im Neugeborenenscreening tragen die Verhältnisse (z. B. C3/C2, Phe/Tyr) einen großen Teil der diagnostischen Trennschärfe, weil sie von der Probenqualität weniger abhängen als Einzelwerte.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://loinc.org",
        "concept": [
          {
            "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": "53201-0",
            "display": "3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS"
          },
          {
            "code": "75214-7",
            "display": "Arginine/Ornithine [Molar ratio] in DBS"
          },
          {
            "code": "53398-4",
            "display": "Arginine/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "53200-2",
            "display": "Argininosuccinate/Arginine [Molar ratio] in DBS"
          },
          {
            "code": "45192-2",
            "display": "Carnitine esters/Carnitine.free (C0) [Molar ratio] in DBS"
          },
          {
            "code": "54092-2",
            "display": "Citrulline/Arginine [Molar ratio] in DBS"
          },
          {
            "code": "53157-4",
            "display": "Citrulline/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "53399-2",
            "display": "Citrulline/Tyrosine [Molar ratio] in DBS"
          },
          {
            "code": "104196-1",
            "display": "Creatine/Creatinine [Molar ratio] in DBS"
          },
          {
            "code": "53233-3",
            "display": "Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS"
          },
          {
            "code": "53234-1",
            "display": "Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] 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": "107506-8",
            "display": "Guanidinoacetate/Creatine [Molar ratio] in DBS"
          },
          {
            "code": "104195-3",
            "display": "Guanidinoacetate/Creatinine [Molar ratio] in DBS"
          },
          {
            "code": "75268-3",
            "display": "Leucine/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "75212-1",
            "display": "Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS"
          },
          {
            "code": "53181-4",
            "display": "Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS"
          },
          {
            "code": "80154-8",
            "display": "Monolysocardiolipin/Cardiolipin [Molar ratio] 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": "75215-4",
            "display": "Ornithine/Citrulline [Molar ratio] 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": "74300-5",
            "display": "Phenylalanine/Tyrosine [Molar ratio] in DBS --post therapeutic diet"
          },
          {
            "code": "35572-7",
            "display": "Phenylalanine/Tyrosine [Molar ratio] in DBS"
          },
          {
            "code": "53392-7",
            "display": "Proline/Phenylalanine [Molar ratio] 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": "53156-6",
            "display": "Methionine/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "53400-8",
            "display": "Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] 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": "74481-3",
            "display": "Tyrosine/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "74299-9",
            "display": "Tyrosine/Phenylalanine [Molar ratio] in DBS --post therapeutic diet"
          },
          {
            "code": "53151-7",
            "display": "Valine/Phenylalanine [Molar ratio] in DBS"
          }
        ]
      }
    ]
  }
}