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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-nbs-aminoacid-dbs",
  "meta": {
    "profile": [
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    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
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      "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",
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    {
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            "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": [
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        ]
      }
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    {
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      "valueContactDetail": {
        "telecom": [
          {
            "system": "email",
            "value": "thomas.debertshaeuser@charite.de"
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    },
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      "valueContactDetail": {
        "name": "Taskforce Core Data Set"
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    },
    {
      "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"
          }
        ]
      }
    },
    {
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      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
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          }
        ]
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    },
    {
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      "valueContactDetail": {
        "name": "Interoperability Working Group",
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          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "National Steering Committee",
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  ],
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-aminoacid-dbs",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_NBS_AminoAcid_DBS",
  "title": "MII VS Seltene Erkrankungen NBS Aminosäuren (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": "Aminosäure-Analyte in Trockenblut — die Messgrößen des MS/MS-Aminosäureprofils im Neugeborenenscreening (Phenylketonurie, Ahornsirupkrankheit, Homocystinurie, Tyrosinämie, Harnstoffzyklusdefekte). Abgeleitet aus der LOINC-SNOMED-Ontologie und deshalb NICHT vollständig gegenüber LOINC; 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": "50065-2",
            "display": "1-Methylhistidine [Moles/volume] in DBS"
          },
          {
            "code": "47559-0",
            "display": "Alpha aminobutyrate [Moles/volume] in DBS"
          },
          {
            "code": "53064-2",
            "display": "Beta aminoisobutyrate [Moles/volume] in DBS"
          },
          {
            "code": "47539-2",
            "display": "3-Methylhistidine [Moles/volume] in DBS"
          },
          {
            "code": "47551-7",
            "display": "Alanine [Moles/volume] in DBS"
          },
          {
            "code": "47556-6",
            "display": "Alanine/Amino acids.total in DBS"
          },
          {
            "code": "88018-7",
            "display": "Alanine/Lysine [Mass Ratio] in DBS"
          },
          {
            "code": "94572-5",
            "display": "Alloisoleucine [Moles/volume] in DBS"
          },
          {
            "code": "74875-6",
            "display": "Alloisoleucine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "50083-5",
            "display": "Alpha aminoadipate [Moles/volume] in DBS"
          },
          {
            "code": "47562-4",
            "display": "Arginine [Moles/volume] in DBS"
          },
          {
            "code": "74876-4",
            "display": "Arginine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "43927-3",
            "display": "Arginine [Presence] in DBS"
          },
          {
            "code": "47567-3",
            "display": "Arginine/Amino acids.total in DBS"
          },
          {
            "code": "75214-7",
            "display": "Arginine/Ornithine [Molar ratio] in DBS"
          },
          {
            "code": "53398-4",
            "display": "Arginine/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "74877-2",
            "display": "Argininosuccinate [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "53062-6",
            "display": "Argininosuccinate [Moles/volume] in DBS"
          },
          {
            "code": "53200-2",
            "display": "Argininosuccinate/Arginine [Molar ratio] in DBS"
          },
          {
            "code": "47572-3",
            "display": "Asparagine [Moles/volume] in DBS"
          },
          {
            "code": "53063-4",
            "display": "Beta alanine [Moles/volume] in DBS"
          },
          {
            "code": "38480-0",
            "display": "Carnitine [Moles/volume] in DBS"
          },
          {
            "code": "42892-0",
            "display": "Citrulline [Moles/volume] 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": "53066-7",
            "display": "Cystathionine [Moles/volume] in DBS"
          },
          {
            "code": "38481-8",
            "display": "Carnitine free (C0) [Moles/volume] in DBS"
          },
          {
            "code": "74878-0",
            "display": "Carnitine free (C0) [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "53095-6",
            "display": "Carnitine free (C0)/Carnitine.total 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": "47630-9",
            "display": "Glutamine [Moles/volume] in DBS"
          },
          {
            "code": "47633-3",
            "display": "Glycine [Moles/volume] in DBS"
          },
          {
            "code": "47638-2",
            "display": "Glycine/Amino acids.total in DBS"
          },
          {
            "code": "93488-5",
            "display": "Guanidinoacetate [Moles/volume] in DBS"
          },
          {
            "code": "107506-8",
            "display": "Guanidinoacetate/Creatine [Molar ratio] in DBS"
          },
          {
            "code": "104195-3",
            "display": "Guanidinoacetate/Creatinine [Molar ratio] in DBS"
          },
          {
            "code": "47643-2",
            "display": "Histidine [Moles/volume] in DBS"
          },
          {
            "code": "47648-1",
            "display": "Histidine/Amino acids.total in DBS"
          },
          {
            "code": "53158-2",
            "display": "Homocitrulline [Moles/volume] in DBS"
          },
          {
            "code": "44376-2",
            "display": "Homocysteine [Presence] in DBS"
          },
          {
            "code": "54301-7",
            "display": "Homocysteine [Moles/volume] in DBS"
          },
          {
            "code": "38486-7",
            "display": "Homocystine [Presence] in DBS"
          },
          {
            "code": "54302-5",
            "display": "Homocystine [Moles/volume] in DBS"
          },
          {
            "code": "54303-3",
            "display": "Hydroxylysine [Moles/volume] in DBS"
          },
          {
            "code": "74880-6",
            "display": "Hydroxyproline [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "47651-5",
            "display": "Hydroxyproline [Moles/volume] in DBS"
          },
          {
            "code": "74881-4",
            "display": "Isoleucine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "47671-3",
            "display": "Isoleucine [Moles/volume] in DBS"
          },
          {
            "code": "47676-2",
            "display": "Isoleucine/Amino acids.total in DBS"
          },
          {
            "code": "47679-6",
            "display": "Leucine [Moles/volume] in DBS"
          },
          {
            "code": "74882-2",
            "display": "Leucine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "57994-6",
            "display": "Leucine/Alanine [Mass Ratio] in DBS"
          },
          {
            "code": "47684-6",
            "display": "Leucine/Amino acids.total in DBS"
          },
          {
            "code": "75268-3",
            "display": "Leucine/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "57995-3",
            "display": "Leucine/Phenylalanine [Mass Ratio] in DBS"
          },
          {
            "code": "47689-5",
            "display": "Lysine [Moles/volume] in DBS"
          },
          {
            "code": "47694-5",
            "display": "Lysine/Amino acids.total in DBS"
          },
          {
            "code": "74883-0",
            "display": "Ornithine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "47714-1",
            "display": "Ornithine [Moles/volume] in DBS"
          },
          {
            "code": "75215-4",
            "display": "Ornithine/Citrulline [Molar ratio] in DBS"
          },
          {
            "code": "109502-5",
            "display": "Phenylalanine [Measurement] in DBS"
          },
          {
            "code": "29572-5",
            "display": "Phenylalanine [Mass/volume] in DBS"
          },
          {
            "code": "74303-9",
            "display": "Phenylalanine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "29573-3",
            "display": "Phenylalanine [Moles/volume] in DBS"
          },
          {
            "code": "29571-7",
            "display": "Phenylalanine [Presence] in DBS"
          },
          {
            "code": "55969-0",
            "display": "Phenylalanine/Amino acids.total 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": "54489-0",
            "display": "Phosphoserine [Moles/volume] in DBS"
          },
          {
            "code": "54328-0",
            "display": "Pipecolate [Moles/volume] in DBS"
          },
          {
            "code": "47732-3",
            "display": "Proline [Moles/volume] in DBS"
          },
          {
            "code": "47736-4",
            "display": "Proline/Amino acids.total in DBS"
          },
          {
            "code": "53392-7",
            "display": "Proline/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "47700-0",
            "display": "Methionine [Moles/volume] in DBS"
          },
          {
            "code": "63380-0",
            "display": "Methionine [Presence] in DBS"
          },
          {
            "code": "47705-9",
            "display": "Methionine/Amino acids.total in DBS"
          },
          {
            "code": "53156-6",
            "display": "Methionine/Phenylalanine [Molar ratio] in DBS"
          },
          {
            "code": "47742-2",
            "display": "Serine [Moles/volume] in DBS"
          },
          {
            "code": "47747-1",
            "display": "Serine/Amino acids.total in DBS"
          },
          {
            "code": "47782-8",
            "display": "Taurine [Moles/volume] in DBS"
          },
          {
            "code": "47784-4",
            "display": "Threonine [Moles/volume] in DBS"
          },
          {
            "code": "47789-3",
            "display": "Threonine/Amino acids.total in DBS"
          },
          {
            "code": "79330-7",
            "display": "Trimethyllysine [Moles/volume] in DBS"
          },
          {
            "code": "53159-0",
            "display": "Tryptophan [Moles/volume] in DBS"
          },
          {
            "code": "35571-9",
            "display": "Tyrosine [Moles/volume] in DBS"
          },
          {
            "code": "45032-0",
            "display": "Tyrosine [Mass/volume] in DBS"
          },
          {
            "code": "74302-1",
            "display": "Tyrosine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "47796-8",
            "display": "Tyrosine/Amino acids.total 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": "74884-8",
            "display": "Valine [Moles/volume] in DBS --post therapeutic diet"
          },
          {
            "code": "47799-2",
            "display": "Valine [Moles/volume] in DBS"
          },
          {
            "code": "47804-0",
            "display": "Valine/Amino acids.total in DBS"
          },
          {
            "code": "53151-7",
            "display": "Valine/Phenylalanine [Molar ratio] in DBS"
          }
        ]
      }
    ]
  }
}