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
| Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-enzyme-activity-dbs | Version: 2027.0.0-ballot | |||
| Active Stand: 2026-09-14 | Maschinenlesbarer Name: MII_VS_Seltene_NBS_EnzymeActivity_DBS | |||
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.
References
This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)
Profiles: CRMI Shareable ValueSet, CRMI Publishable ValueSet
http://loinc.org version Not Stated (use latest from terminology server)| Code | Display |
| 55909-6 | Alpha-L-iduronidase [Enzymatic activity/volume] in DBS |
| 79455-2 | Alpha-N-acetylgalactosaminidase [Enzymatic activity/volume] in DBS |
| 88019-5 | N-Acetylgalactosamine-6-Sulfatase [Enzymatic activity/volume] in DBS |
| 79463-6 | N-Acetylgalactosamine-4-Sulfatase [Enzymatic activity/volume] in DBS |
| 75094-3 | Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS --post therapeutic diet |
| 42906-8 | Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS |
| 55827-0 | Acid alpha glucosidase [Enzymatic activity/volume] in DBS |
| 62316-5 | Acid sphingomyelinase [Enzymatic activity/volume] in DBS |
| 75052-1 | Adenosine deaminase [Enzymatic activity/volume] in DBS |
| 96586-3 | Alanine aminotransferase [Enzymatic activity/volume] in DBS |
| 79454-5 | Alpha fucosidase [Enzymatic activity/volume] in DBS |
| 104114-4 | Alpha-N-acetylglucosaminidase [Enzymatic activity/volume] in DBS |
| 55908-8 | Alpha galactosidase A [Enzymatic activity/volume] in DBS |
| 55910-4 | Alpha mannosidase [Enzymatic activity/volume] in DBS |
| 55912-0 | Arylsulfatase [Enzymatic activity/volume] in DBS |
| 96587-1 | Aspartate aminotransferase [Enzymatic activity/volume] in DBS |
| 79458-6 | Beta-N-acetylhexosaminidase [Enzymatic activity/volume] in DBS |
| 55916-1 | Beta galactosidase [Enzymatic activity/volume] in DBS |
| 79457-8 | Beta glucuronidase [Enzymatic activity/volume] in DBS |
| 80425-2 | Beta-N-acetylhexosaminidase.A [Enzymatic activity/volume] in DBS |
| 75217-0 | Biotinidase [Enzymatic activity/volume] in DBS |
| 111824-9 | Cerebroside sulfatase [Enzymatic activity/volume] in DBS |
| 55836-1 | Chitotriosidase [Enzymatic activity/volume] in DBS |
| 73958-1 | Cholesterol esterase [Enzymatic activity/volume] in DBS |
| 107446-7 | Creatine kinase.MM [Enzymatic activity/volume] in DBS |
| 62310-8 | Galactosylceramidase [Enzymatic activity/volume] in DBS |
| 96593-9 | Gamma glutamyl transferase [Enzymatic activity/volume] in DBS |
| 55917-9 | Glucosylceramidase [Enzymatic activity/volume] in DBS |
| 104113-6 | Heparan-N-sulfatase [Enzymatic activity/volume] in DBS |
| 79462-8 | Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS |
| 59246-9 | Palmitoyl protein thioesterase [Enzymatic activity/volume] in DBS |
| 79467-7 | Purine nucleoside phosphorylase [Enzymatic activity/volume] in DBS |
| 75058-8 | Thymidine phosphorylase [Enzymatic activity/volume] in DBS |
| 72498-9 | Tripeptidyl peptidase I [Enzymatic activity/volume] in DBS |
Expansion from 127.0.0.1 based on Loinc v2.83
This value set contains 34 concepts
| System | Code | Display (de) | JSON | XML |
http://loinc.org | 55909-6 | |||
http://loinc.org | 79455-2 | |||
http://loinc.org | 88019-5 | |||
http://loinc.org | 79463-6 | |||
http://loinc.org | 75094-3 | |||
http://loinc.org | 42906-8 | |||
http://loinc.org | 55827-0 | |||
http://loinc.org | 62316-5 | |||
http://loinc.org | 75052-1 | |||
http://loinc.org | 96586-3 | |||
http://loinc.org | 79454-5 | |||
http://loinc.org | 104114-4 | |||
http://loinc.org | 55908-8 | |||
http://loinc.org | 55910-4 | |||
http://loinc.org | 55912-0 | |||
http://loinc.org | 96587-1 | |||
http://loinc.org | 79458-6 | |||
http://loinc.org | 55916-1 | |||
http://loinc.org | 79457-8 | |||
http://loinc.org | 80425-2 | |||
http://loinc.org | 75217-0 | |||
http://loinc.org | 111824-9 | |||
http://loinc.org | 55836-1 | |||
http://loinc.org | 73958-1 | |||
http://loinc.org | 107446-7 | |||
http://loinc.org | 62310-8 | |||
http://loinc.org | 96593-9 | |||
http://loinc.org | 55917-9 | |||
http://loinc.org | 104113-6 | |||
http://loinc.org | 79462-8 | |||
http://loinc.org | 59246-9 | |||
http://loinc.org | 79467-7 | |||
http://loinc.org | 75058-8 | |||
http://loinc.org | 72498-9 |