MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
| Active as of 2026-09-14 |
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<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-aminoacid-dbs</b></p><a name="mii-vs-seltene-nbs-aminoacid-dbs"> </a><a name="hcmii-vs-seltene-nbs-aminoacid-dbs"> </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/50065-2/">50065-2</a></td><td>1-Methylhistidine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47559-0/">47559-0</a></td><td>Alpha aminobutyrate [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/53064-2/">53064-2</a></td><td>Beta aminoisobutyrate [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47539-2/">47539-2</a></td><td>3-Methylhistidine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47551-7/">47551-7</a></td><td>Alanine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47556-6/">47556-6</a></td><td>Alanine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/88018-7/">88018-7</a></td><td>Alanine/Lysine [Mass Ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/94572-5/">94572-5</a></td><td>Alloisoleucine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/74875-6/">74875-6</a></td><td>Alloisoleucine [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/50083-5/">50083-5</a></td><td>Alpha aminoadipate [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47562-4/">47562-4</a></td><td>Arginine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/74876-4/">74876-4</a></td><td>Arginine [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/43927-3/">43927-3</a></td><td>Arginine [Presence] in DBS</td></tr><tr><td><a href="https://loinc.org/47567-3/">47567-3</a></td><td>Arginine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/75214-7/">75214-7</a></td><td>Arginine/Ornithine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/53398-4/">53398-4</a></td><td>Arginine/Phenylalanine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/74877-2/">74877-2</a></td><td>Argininosuccinate [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/53062-6/">53062-6</a></td><td>Argininosuccinate [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/53200-2/">53200-2</a></td><td>Argininosuccinate/Arginine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/47572-3/">47572-3</a></td><td>Asparagine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/53063-4/">53063-4</a></td><td>Beta alanine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/38480-0/">38480-0</a></td><td>Carnitine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/42892-0/">42892-0</a></td><td>Citrulline [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/54092-2/">54092-2</a></td><td>Citrulline/Arginine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/53157-4/">53157-4</a></td><td>Citrulline/Phenylalanine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/53399-2/">53399-2</a></td><td>Citrulline/Tyrosine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/53066-7/">53066-7</a></td><td>Cystathionine [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/74878-0/">74878-0</a></td><td>Carnitine free (C0) [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/53095-6/">53095-6</a></td><td>Carnitine free (C0)/Carnitine.total in DBS</td></tr><tr><td><a href="https://loinc.org/53233-3/">53233-3</a></td><td>Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/53234-1/">53234-1</a></td><td>Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/47630-9/">47630-9</a></td><td>Glutamine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47633-3/">47633-3</a></td><td>Glycine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47638-2/">47638-2</a></td><td>Glycine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/93488-5/">93488-5</a></td><td>Guanidinoacetate [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/107506-8/">107506-8</a></td><td>Guanidinoacetate/Creatine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/104195-3/">104195-3</a></td><td>Guanidinoacetate/Creatinine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/47643-2/">47643-2</a></td><td>Histidine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47648-1/">47648-1</a></td><td>Histidine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/53158-2/">53158-2</a></td><td>Homocitrulline [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/44376-2/">44376-2</a></td><td>Homocysteine [Presence] in DBS</td></tr><tr><td><a href="https://loinc.org/54301-7/">54301-7</a></td><td>Homocysteine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/38486-7/">38486-7</a></td><td>Homocystine [Presence] in DBS</td></tr><tr><td><a href="https://loinc.org/54302-5/">54302-5</a></td><td>Homocystine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/54303-3/">54303-3</a></td><td>Hydroxylysine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/74880-6/">74880-6</a></td><td>Hydroxyproline [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/47651-5/">47651-5</a></td><td>Hydroxyproline [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/74881-4/">74881-4</a></td><td>Isoleucine [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/47671-3/">47671-3</a></td><td>Isoleucine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47676-2/">47676-2</a></td><td>Isoleucine/Amino acids.total 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/74882-2/">74882-2</a></td><td>Leucine [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/57994-6/">57994-6</a></td><td>Leucine/Alanine [Mass Ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/47684-6/">47684-6</a></td><td>Leucine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/75268-3/">75268-3</a></td><td>Leucine/Phenylalanine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/57995-3/">57995-3</a></td><td>Leucine/Phenylalanine [Mass Ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/47689-5/">47689-5</a></td><td>Lysine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47694-5/">47694-5</a></td><td>Lysine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/74883-0/">74883-0</a></td><td>Ornithine [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/47714-1/">47714-1</a></td><td>Ornithine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/75215-4/">75215-4</a></td><td>Ornithine/Citrulline [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/109502-5/">109502-5</a></td><td>Phenylalanine [Measurement] in DBS</td></tr><tr><td><a href="https://loinc.org/29572-5/">29572-5</a></td><td>Phenylalanine [Mass/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/74303-9/">74303-9</a></td><td>Phenylalanine [Moles/volume] in DBS --post therapeutic diet</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/29571-7/">29571-7</a></td><td>Phenylalanine [Presence] in DBS</td></tr><tr><td><a href="https://loinc.org/55969-0/">55969-0</a></td><td>Phenylalanine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/74300-5/">74300-5</a></td><td>Phenylalanine/Tyrosine [Molar ratio] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/35572-7/">35572-7</a></td><td>Phenylalanine/Tyrosine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/54489-0/">54489-0</a></td><td>Phosphoserine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/54328-0/">54328-0</a></td><td>Pipecolate [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47732-3/">47732-3</a></td><td>Proline [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47736-4/">47736-4</a></td><td>Proline/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/53392-7/">53392-7</a></td><td>Proline/Phenylalanine [Molar ratio] 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/63380-0/">63380-0</a></td><td>Methionine [Presence] in DBS</td></tr><tr><td><a href="https://loinc.org/47705-9/">47705-9</a></td><td>Methionine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/53156-6/">53156-6</a></td><td>Methionine/Phenylalanine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/47742-2/">47742-2</a></td><td>Serine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47747-1/">47747-1</a></td><td>Serine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/47782-8/">47782-8</a></td><td>Taurine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47784-4/">47784-4</a></td><td>Threonine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47789-3/">47789-3</a></td><td>Threonine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/79330-7/">79330-7</a></td><td>Trimethyllysine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/53159-0/">53159-0</a></td><td>Tryptophan [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/35571-9/">35571-9</a></td><td>Tyrosine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/45032-0/">45032-0</a></td><td>Tyrosine [Mass/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/74302-1/">74302-1</a></td><td>Tyrosine [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/47796-8/">47796-8</a></td><td>Tyrosine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/74481-3/">74481-3</a></td><td>Tyrosine/Phenylalanine [Molar ratio] in DBS</td></tr><tr><td><a href="https://loinc.org/74299-9/">74299-9</a></td><td>Tyrosine/Phenylalanine [Molar ratio] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/74884-8/">74884-8</a></td><td>Valine [Moles/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href="https://loinc.org/47799-2/">47799-2</a></td><td>Valine [Moles/volume] in DBS</td></tr><tr><td><a href="https://loinc.org/47804-0/">47804-0</a></td><td>Valine/Amino acids.total in DBS</td></tr><tr><td><a href="https://loinc.org/53151-7/">53151-7</a></td><td>Valine/Phenylalanine [Molar ratio] in DBS</td></tr></table></li></ul></div>
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<concept>
<code value="53095-6"/>
<display value="Carnitine free (C0)/Carnitine.total in DBS"/>
</concept>
<concept>
<code value="53233-3"/>
<display
value="Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="53234-1"/>
<display
value="Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="47630-9"/>
<display value="Glutamine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47633-3"/>
<display value="Glycine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47638-2"/>
<display value="Glycine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="93488-5"/>
<display value="Guanidinoacetate [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="107506-8"/>
<display value="Guanidinoacetate/Creatine [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="104195-3"/>
<display value="Guanidinoacetate/Creatinine [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="47643-2"/>
<display value="Histidine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47648-1"/>
<display value="Histidine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="53158-2"/>
<display value="Homocitrulline [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="44376-2"/>
<display value="Homocysteine [Presence] in DBS"/>
</concept>
<concept>
<code value="54301-7"/>
<display value="Homocysteine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="38486-7"/>
<display value="Homocystine [Presence] in DBS"/>
</concept>
<concept>
<code value="54302-5"/>
<display value="Homocystine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="54303-3"/>
<display value="Hydroxylysine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="74880-6"/>
<display
value="Hydroxyproline [Moles/volume] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="47651-5"/>
<display value="Hydroxyproline [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="74881-4"/>
<display
value="Isoleucine [Moles/volume] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="47671-3"/>
<display value="Isoleucine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47676-2"/>
<display value="Isoleucine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="47679-6"/>
<display value="Leucine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="74882-2"/>
<display
value="Leucine [Moles/volume] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="57994-6"/>
<display value="Leucine/Alanine [Mass Ratio] in DBS"/>
</concept>
<concept>
<code value="47684-6"/>
<display value="Leucine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="75268-3"/>
<display value="Leucine/Phenylalanine [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="57995-3"/>
<display value="Leucine/Phenylalanine [Mass Ratio] in DBS"/>
</concept>
<concept>
<code value="47689-5"/>
<display value="Lysine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47694-5"/>
<display value="Lysine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="74883-0"/>
<display
value="Ornithine [Moles/volume] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="47714-1"/>
<display value="Ornithine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="75215-4"/>
<display value="Ornithine/Citrulline [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="109502-5"/>
<display value="Phenylalanine [Measurement] in DBS"/>
</concept>
<concept>
<code value="29572-5"/>
<display value="Phenylalanine [Mass/volume] in DBS"/>
</concept>
<concept>
<code value="74303-9"/>
<display
value="Phenylalanine [Moles/volume] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="29573-3"/>
<display value="Phenylalanine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="29571-7"/>
<display value="Phenylalanine [Presence] in DBS"/>
</concept>
<concept>
<code value="55969-0"/>
<display value="Phenylalanine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="74300-5"/>
<display
value="Phenylalanine/Tyrosine [Molar ratio] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="35572-7"/>
<display value="Phenylalanine/Tyrosine [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="54489-0"/>
<display value="Phosphoserine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="54328-0"/>
<display value="Pipecolate [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47732-3"/>
<display value="Proline [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47736-4"/>
<display value="Proline/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="53392-7"/>
<display value="Proline/Phenylalanine [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="47700-0"/>
<display value="Methionine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="63380-0"/>
<display value="Methionine [Presence] in DBS"/>
</concept>
<concept>
<code value="47705-9"/>
<display value="Methionine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="53156-6"/>
<display value="Methionine/Phenylalanine [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="47742-2"/>
<display value="Serine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47747-1"/>
<display value="Serine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="47782-8"/>
<display value="Taurine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47784-4"/>
<display value="Threonine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47789-3"/>
<display value="Threonine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="79330-7"/>
<display value="Trimethyllysine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="53159-0"/>
<display value="Tryptophan [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="35571-9"/>
<display value="Tyrosine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="45032-0"/>
<display value="Tyrosine [Mass/volume] in DBS"/>
</concept>
<concept>
<code value="74302-1"/>
<display
value="Tyrosine [Moles/volume] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="47796-8"/>
<display value="Tyrosine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="74481-3"/>
<display value="Tyrosine/Phenylalanine [Molar ratio] in DBS"/>
</concept>
<concept>
<code value="74299-9"/>
<display
value="Tyrosine/Phenylalanine [Molar ratio] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="74884-8"/>
<display
value="Valine [Moles/volume] in DBS --post therapeutic diet"/>
</concept>
<concept>
<code value="47799-2"/>
<display value="Valine [Moles/volume] in DBS"/>
</concept>
<concept>
<code value="47804-0"/>
<display value="Valine/Amino acids.total in DBS"/>
</concept>
<concept>
<code value="53151-7"/>
<display value="Valine/Phenylalanine [Molar ratio] in DBS"/>
</concept>
</include>
</compose>
</ValueSet>