MII VS Seltene Erkrankungen NBS Leitanalyten der Zielkrankheiten - XML Representation - MII IG Kerndatensatz-Modul Seltene Erkrankungen v2027.0.0-ballot

MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany
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: MII VS Seltene Erkrankungen NBS Leitanalyten der Zielkrankheiten

Active Stand: 2026-09-14
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    <div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: ValueSet mii-vs-seltene-nbs-target-analyte</b></p><a name="de-mii-vs-seltene-nbs-target-analyte"> </a><a name="de-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>
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  <name value="MII_VS_Seltene_NBS_TargetAnalyte"/>
  <title
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  <date value="2026-09-14T22:11:28+00:00"/>
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               value="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."/>
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      <concept>
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        <display value="17-Hydroxyprogesterone [Mass/volume] in DBS"/>
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        <display value="Biotinidase [Enzymatic activity/volume] in DBS"/>
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        <display value="Galactose [Mass/volume] in DBS"/>
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        <display value="Phenylalanine [Moles/volume] in DBS"/>
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      <concept>
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        <display value="Leucine [Moles/volume] in DBS"/>
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        <display value="Octanoylcarnitine (C8) [Moles/volume] in DBS"/>
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        <display value="Succinylacetone [Moles/volume] in DBS"/>
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        <display value="Propionylcarnitine (C3) [Moles/volume] in DBS"/>
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        <display value="Methionine [Moles/volume] in DBS"/>
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      <concept>
        <code value="48633-2"/>
        <display value="Trypsinogen I Free [Mass/volume] in DBS"/>
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