MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions
| Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-target-analyte | Version: 2027.0.0-ballot | |||
| Active Stand: 2026-09-14 | Maschinenlesbarer Name: MII_VS_Seltene_NBS_TargetAnalyte | |||
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.
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 |
| 29575-8 | Thyrotropin [Units/volume] in DBS |
| 38473-5 | 17-Hydroxyprogesterone [Mass/volume] in DBS |
| 75217-0 | Biotinidase [Enzymatic activity/volume] in DBS |
| 54084-9 | Galactose [Mass/volume] in DBS |
| 29573-3 | Phenylalanine [Moles/volume] in DBS |
| 47679-6 | Leucine [Moles/volume] in DBS |
| 53175-6 | Octanoylcarnitine (C8) [Moles/volume] in DBS |
| 50125-4 | 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS |
| 53191-3 | Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS |
| 38481-8 | Carnitine free (C0) [Moles/volume] in DBS |
| 53199-6 | Palmitoylcarnitine (C16) [Moles/volume] in DBS |
| 53235-8 | Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS |
| 45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS |
| 42920-9 | Isovalerylcarnitine (C5) [Moles/volume] in DBS |
| 53231-7 | Succinylacetone [Moles/volume] in DBS |
| 62320-7 | T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 92002-5 | SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection |
| 53160-8 | Propionylcarnitine (C3) [Moles/volume] in DBS |
| 47700-0 | Methionine [Moles/volume] in DBS |
| 48633-2 | Trypsinogen I Free [Mass/volume] in DBS |
Expansion from 127.0.0.1 based on Loinc v2.83
This value set contains 21 concepts
| System | Code | Display (de) | JSON | XML |
http://loinc.org | 29575-8 | |||
http://loinc.org | 38473-5 | |||
http://loinc.org | 75217-0 | |||
http://loinc.org | 54084-9 | |||
http://loinc.org | 29573-3 | |||
http://loinc.org | 47679-6 | |||
http://loinc.org | 53175-6 | |||
http://loinc.org | 50125-4 | |||
http://loinc.org | 53191-3 | |||
http://loinc.org | 38481-8 | |||
http://loinc.org | 53199-6 | |||
http://loinc.org | 53235-8 | |||
http://loinc.org | 45207-8 | |||
http://loinc.org | 42920-9 | |||
http://loinc.org | 53231-7 | |||
http://loinc.org | 62320-7 | |||
http://loinc.org | 54081-5 | |||
http://loinc.org | 92002-5 | |||
http://loinc.org | 53160-8 | |||
http://loinc.org | 47700-0 | |||
http://loinc.org | 48633-2 |