{
  "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"]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: ValueSet mii-vs-seltene-nbs-target-analyte</b></p><a name=\"mii-vs-seltene-nbs-target-analyte\"> </a><a name=\"hcmii-vs-seltene-nbs-target-analyte\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-shareablevalueset.html\">CRMI Shareable ValueSet</a>, <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-publishablevalueset.html\">CRMI Publishable ValueSet</a></p></div><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/29575-8/\">29575-8</a></td><td>Thyrotropin [Units/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/38473-5/\">38473-5</a></td><td>17-Hydroxyprogesterone [Mass/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/75217-0/\">75217-0</a></td><td>Biotinidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/54084-9/\">54084-9</a></td><td>Galactose [Mass/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/29573-3/\">29573-3</a></td><td>Phenylalanine [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/47679-6/\">47679-6</a></td><td>Leucine [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53175-6/\">53175-6</a></td><td>Octanoylcarnitine (C8) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/50125-4/\">50125-4</a></td><td>3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53191-3/\">53191-3</a></td><td>Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/38481-8/\">38481-8</a></td><td>Carnitine free (C0) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53199-6/\">53199-6</a></td><td>Palmitoylcarnitine (C16) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53235-8/\">53235-8</a></td><td>Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS</td></tr><tr><td><a href=\"https://loinc.org/45207-8/\">45207-8</a></td><td>Glutarylcarnitine (C5-DC) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/42920-9/\">42920-9</a></td><td>Isovalerylcarnitine (C5) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53231-7/\">53231-7</a></td><td>Succinylacetone [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/62320-7/\">62320-7</a></td><td>T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection</td></tr><tr><td><a href=\"https://loinc.org/54081-5/\">54081-5</a></td><td>Hemoglobinopathies newborn screening panel</td></tr><tr><td><a href=\"https://loinc.org/92002-5/\">92002-5</a></td><td>SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection</td></tr><tr><td><a href=\"https://loinc.org/53160-8/\">53160-8</a></td><td>Propionylcarnitine (C3) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/47700-0/\">47700-0</a></td><td>Methionine [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/48633-2/\">48633-2</a></td><td>Trypsinogen I Free [Mass/volume] in DBS</td></tr></table></li></ul></div>"
  },
  "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-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",
  "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"
      }]
    }]
  }
}