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 Stand: 2026-09-14 |
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"div" : "<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-enzyme-activity-dbs</b></p><a name=\"de-mii-vs-seltene-nbs-enzyme-activity-dbs\"> </a><a name=\"de-hcmii-vs-seltene-nbs-enzyme-activity-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/55909-6/\">55909-6</a></td><td>Alpha-L-iduronidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/79455-2/\">79455-2</a></td><td>Alpha-N-acetylgalactosaminidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/88019-5/\">88019-5</a></td><td>N-Acetylgalactosamine-6-Sulfatase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/79463-6/\">79463-6</a></td><td>N-Acetylgalactosamine-4-Sulfatase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/75094-3/\">75094-3</a></td><td>Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS --post therapeutic diet</td></tr><tr><td><a href=\"https://loinc.org/42906-8/\">42906-8</a></td><td>Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/55827-0/\">55827-0</a></td><td>Acid alpha glucosidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/62316-5/\">62316-5</a></td><td>Acid sphingomyelinase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/75052-1/\">75052-1</a></td><td>Adenosine deaminase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/96586-3/\">96586-3</a></td><td>Alanine aminotransferase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/79454-5/\">79454-5</a></td><td>Alpha fucosidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/104114-4/\">104114-4</a></td><td>Alpha-N-acetylglucosaminidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/55908-8/\">55908-8</a></td><td>Alpha galactosidase A [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/55910-4/\">55910-4</a></td><td>Alpha mannosidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/55912-0/\">55912-0</a></td><td>Arylsulfatase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/96587-1/\">96587-1</a></td><td>Aspartate aminotransferase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/79458-6/\">79458-6</a></td><td>Beta-N-acetylhexosaminidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/55916-1/\">55916-1</a></td><td>Beta galactosidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/79457-8/\">79457-8</a></td><td>Beta glucuronidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/80425-2/\">80425-2</a></td><td>Beta-N-acetylhexosaminidase.A [Enzymatic activity/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/111824-9/\">111824-9</a></td><td>Cerebroside sulfatase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/55836-1/\">55836-1</a></td><td>Chitotriosidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/73958-1/\">73958-1</a></td><td>Cholesterol esterase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/107446-7/\">107446-7</a></td><td>Creatine kinase.MM [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/62310-8/\">62310-8</a></td><td>Galactosylceramidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/96593-9/\">96593-9</a></td><td>Gamma glutamyl transferase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/55917-9/\">55917-9</a></td><td>Glucosylceramidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/104113-6/\">104113-6</a></td><td>Heparan-N-sulfatase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/79462-8/\">79462-8</a></td><td>Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/59246-9/\">59246-9</a></td><td>Palmitoyl protein thioesterase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/79467-7/\">79467-7</a></td><td>Purine nucleoside phosphorylase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/75058-8/\">75058-8</a></td><td>Thymidine phosphorylase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/72498-9/\">72498-9</a></td><td>Tripeptidyl peptidase I [Enzymatic activity/volume] in DBS</td></tr></table></li></ul></div>"
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"valueDate" : "2026-09-02"
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"valueContactDetail" : {
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"valueContactDetail" : {
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"valueContactDetail" : {
"name" : "Interoperability Working Group",
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"valueContactDetail" : {
"name" : "National Steering Committee",
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"valueContactDetail" : {
"name" : "National Steering Committee",
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"url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-enzyme-activity-dbs",
"version" : "2027.0.0-ballot",
"name" : "MII_VS_Seltene_NBS_EnzymeActivity_DBS",
"title" : "MII VS Seltene Erkrankungen NBS Enzymaktivitäten (Trockenblut)",
"status" : "active",
"experimental" : false,
"date" : "2026-09-14T21:59:44+00:00",
"publisher" : "Medizininformatik Initiative",
"contact" : [
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"description" : "Enzymaktivitäten (katalytische Konzentration), die in Trockenblut bestimmt werden — u. a. Biotinidase und Galaktose-Enzyme des deutschen Neugeborenenscreenings sowie die Enzyme lysosomaler Speicherkrankheiten, die international gescreent werden.",
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"compose" : {
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"concept" : [
{
"code" : "55909-6",
"display" : "Alpha-L-iduronidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "79455-2",
"display" : "Alpha-N-acetylgalactosaminidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "88019-5",
"display" : "N-Acetylgalactosamine-6-Sulfatase [Enzymatic activity/volume] in DBS"
},
{
"code" : "79463-6",
"display" : "N-Acetylgalactosamine-4-Sulfatase [Enzymatic activity/volume] in DBS"
},
{
"code" : "75094-3",
"display" : "Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS --post therapeutic diet"
},
{
"code" : "42906-8",
"display" : "Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS"
},
{
"code" : "55827-0",
"display" : "Acid alpha glucosidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "62316-5",
"display" : "Acid sphingomyelinase [Enzymatic activity/volume] in DBS"
},
{
"code" : "75052-1",
"display" : "Adenosine deaminase [Enzymatic activity/volume] in DBS"
},
{
"code" : "96586-3",
"display" : "Alanine aminotransferase [Enzymatic activity/volume] in DBS"
},
{
"code" : "79454-5",
"display" : "Alpha fucosidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "104114-4",
"display" : "Alpha-N-acetylglucosaminidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "55908-8",
"display" : "Alpha galactosidase A [Enzymatic activity/volume] in DBS"
},
{
"code" : "55910-4",
"display" : "Alpha mannosidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "55912-0",
"display" : "Arylsulfatase [Enzymatic activity/volume] in DBS"
},
{
"code" : "96587-1",
"display" : "Aspartate aminotransferase [Enzymatic activity/volume] in DBS"
},
{
"code" : "79458-6",
"display" : "Beta-N-acetylhexosaminidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "55916-1",
"display" : "Beta galactosidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "79457-8",
"display" : "Beta glucuronidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "80425-2",
"display" : "Beta-N-acetylhexosaminidase.A [Enzymatic activity/volume] in DBS"
},
{
"code" : "75217-0",
"display" : "Biotinidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "111824-9",
"display" : "Cerebroside sulfatase [Enzymatic activity/volume] in DBS"
},
{
"code" : "55836-1",
"display" : "Chitotriosidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "73958-1",
"display" : "Cholesterol esterase [Enzymatic activity/volume] in DBS"
},
{
"code" : "107446-7",
"display" : "Creatine kinase.MM [Enzymatic activity/volume] in DBS"
},
{
"code" : "62310-8",
"display" : "Galactosylceramidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "96593-9",
"display" : "Gamma glutamyl transferase [Enzymatic activity/volume] in DBS"
},
{
"code" : "55917-9",
"display" : "Glucosylceramidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "104113-6",
"display" : "Heparan-N-sulfatase [Enzymatic activity/volume] in DBS"
},
{
"code" : "79462-8",
"display" : "Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS"
},
{
"code" : "59246-9",
"display" : "Palmitoyl protein thioesterase [Enzymatic activity/volume] in DBS"
},
{
"code" : "79467-7",
"display" : "Purine nucleoside phosphorylase [Enzymatic activity/volume] in DBS"
},
{
"code" : "75058-8",
"display" : "Thymidine phosphorylase [Enzymatic activity/volume] in DBS"
},
{
"code" : "72498-9",
"display" : "Tripeptidyl peptidase I [Enzymatic activity/volume] in DBS"
}
]
}
]
}
}