{
"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.",
"compose": {
"include": [ {
"system": "http://loinc.org",
"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"
} ]
} ]
},
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"package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
"date": "2026-09-14T21:59:44+00:00",
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"system": "urn:iso:std:iso:3166",
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},
"name": "MII_VS_Seltene_NBS_EnzymeActivity_DBS",
"type": null,
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