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

ValueSet: MII VS Seltene Erkrankungen NBS Acylcarnitine (Trockenblut)

Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-acylcarnitine-dbs Version: 2027.0.0-ballot
Active Stand: 2026-09-14 Maschinenlesbarer Name: MII_VS_Seltene_NBS_Acylcarnitine_DBS

Acylcarnitin- und Carnitin-Analyte in Trockenblut (dried blood spot) — die Messgrößen des MS/MS-Acylcarnitinprofils im Neugeborenenscreening (Fettsäureoxidationsstörungen, Organoazidopathien, Carnitinzyklusdefekte). Abgeleitet aus der LOINC-SNOMED-Ontologie und deshalb NICHT vollständig gegenüber LOINC: enthalten ist der nach SNOMED gemappte Teil. Für die lückenlose Menge siehe mii-vs-seltene-nbs-dbs-all.

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

  • Include these codes as defined in http://loinc.org version Not Stated (use latest from terminology server)
    CodeDisplay
    50102-33-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS
    53189-73-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS
    53173-13-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS
    50106-43-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS
    53171-53-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS
    53172-33-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
    50109-83-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS
    50113-03-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS
    50121-33-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS
    50125-43-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS
    53201-03-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
    50132-03-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS
    53196-23-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS
    50281-53-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS
    53197-03-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS
    50157-7Acetylcarnitine (C2) [Moles/volume] in DBS
    53237-4Acrylylcarnitine (C3:1) [Moles/volume] in DBS
    38474-3Acylcarnitine [Moles/volume] in DBS
    43717-8Acylcarnitine [Presence] in DBS
    74628-9Adipoylcarnitine (C6-DC) [Moles/volume] in DBS
    53613-6Benzoylcarnitine (BzCn) [Moles/volume] in DBS
    53065-9Butyrylcarnitine (C4) [Moles/volume] in DBS
    53180-6Decadienoylcarnitine (C10:2) [Moles/volume] in DBS
    45197-1Decanoylcarnitine (C10) [Moles/volume] in DBS
    45198-9Decenoylcarnitine (C10:1) [Moles/volume] in DBS
    53214-3Dicarboxydodecanoylcarnitine (C12-DC) [Moles/volume] in DBS
    53213-5Dicarboxydodecenoylcarnitine (C12:1-DC) [Moles/volume] in DBS
    53218-4Dicarboxypalmitoylcarnitine (C16-DC) [Moles/volume] in DBS
    53220-0Dicarboxystearoylcarnitine (C18-DC) [Moles/volume] in DBS
    53219-2Dicarboxyoleylcarnitine (C18:1-DC) [Moles/volume] in DBS
    53216-8Dicarboxytetradecanoylcarnitine (C14-DC) [Moles/volume] in DBS
    53215-0Dicarboxytetradecenoylcarnitine (C14:1-DC) [Moles/volume] in DBS
    45199-7Dodecanoylcarnitine (C12) [Moles/volume] in DBS
    45200-3Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS
    53462-8Eicosanoylcarnitine (C20) [Moles/volume] in DBS
    45207-8Glutarylcarnitine (C5-DC) [Moles/volume] in DBS
    88016-1Glutarylcarnitine (C5-DC)/Acetylcarnitine (C2) [Molar ratio] in DBS
    75225-3Glutarylcarnitine (C5-DC)/Carnitine (C0) [Molar ratio] in DBS
    75216-2Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS
    75267-5Glutarylcarnitine (C5-DC)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
    88017-9Glutarylcarnitine (C5-DC)/Propionylcarnitine (C3) [Molar ratio] in DBS
    53204-4Heptanoylcarnitine (C7) [Moles/volume] in DBS
    45211-0Hexanoylcarnitine (C6) [Moles/volume] in DBS
    45213-6Isobutyrylcarnitine (C4) [Moles/volume] in DBS
    42920-9Isovalerylcarnitine (C5) [Moles/volume] in DBS
    45217-7Linoleoylcarnitine (C18:2) [Moles/volume] in DBS
    54462-7Malonylcarnitine (C3-DC) [Moles/volume] in DBS
    75212-1Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
    45222-7Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS
    53181-4Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
    53207-7Nonanoylcarnitine (C9) [Moles/volume] in DBS
    53175-6Octanoylcarnitine (C8) [Moles/volume] in DBS
    53176-4Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS
    53177-2Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS
    88014-6Octanoylcarnitine (C8)/Carnitine.free (C0) [Molar ratio] in DBS
    53174-9Octenoylcarnitine (C8:1) [Moles/volume] in DBS
    53202-8Oleoylcarnitine (C18:1) [Moles/volume] in DBS
    53199-6Palmitoylcarnitine (C16) [Moles/volume] in DBS
    88015-3Palmitoylcarnitine (C16)/Acetylcarnitine (C2) [Molar ratio] in DBS
    88024-5Palmitoylcarnitine (C16)/Carnitine.free (C0) [Molar ratio] in DBS
    54475-9Pimeloylcarnitine (C7-DC) [Moles/volume] in DBS
    53160-8Propionylcarnitine (C3) [Moles/volume] in DBS
    53163-2Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS
    53162-4Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS
    53164-0Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
    53161-6Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS
    53241-6Stearoylcarnitine (C18) [Moles/volume] in DBS
    53400-8Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS
    53210-1Suberylcarnitine (C8-DC) [Moles/volume] in DBS
    53190-5Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS
    53192-1Tetradecanoylcarnitine (C14) [Moles/volume] in DBS
    53191-3Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS
    53193-9Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS
    53194-7Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS
    88025-2Tetradecenoylcarnitine (C14:1)/Carnitine.free (C0) [Molar ratio] in DBS
    53195-4Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
    70159-9Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS
    53170-7Tiglylcarnitine (C5:1) [Moles/volume] in DBS

 

Expansion

Expansion from 127.0.0.1 based on Loinc v2.83

This value set contains 78 concepts

SystemCodeDisplay (de)JSONXML
http://loinc.org  50102-3
http://loinc.org  53189-7
http://loinc.org  53173-1
http://loinc.org  50106-4
http://loinc.org  53171-5
http://loinc.org  53172-3
http://loinc.org  50109-8
http://loinc.org  50113-0
http://loinc.org  50121-3
http://loinc.org  50125-4
http://loinc.org  53201-0
http://loinc.org  50132-0
http://loinc.org  53196-2
http://loinc.org  50281-5
http://loinc.org  53197-0
http://loinc.org  50157-7
http://loinc.org  53237-4
http://loinc.org  38474-3
http://loinc.org  43717-8
http://loinc.org  74628-9
http://loinc.org  53613-6
http://loinc.org  53065-9
http://loinc.org  53180-6
http://loinc.org  45197-1
http://loinc.org  45198-9
http://loinc.org  53214-3
http://loinc.org  53213-5
http://loinc.org  53218-4
http://loinc.org  53220-0
http://loinc.org  53219-2
http://loinc.org  53216-8
http://loinc.org  53215-0
http://loinc.org  45199-7
http://loinc.org  45200-3
http://loinc.org  53462-8
http://loinc.org  45207-8
http://loinc.org  88016-1
http://loinc.org  75225-3
http://loinc.org  75216-2
http://loinc.org  75267-5
http://loinc.org  88017-9
http://loinc.org  53204-4
http://loinc.org  45211-0
http://loinc.org  45213-6
http://loinc.org  42920-9
http://loinc.org  45217-7
http://loinc.org  54462-7
http://loinc.org  75212-1
http://loinc.org  45222-7
http://loinc.org  53181-4
http://loinc.org  53207-7
http://loinc.org  53175-6
http://loinc.org  53176-4
http://loinc.org  53177-2
http://loinc.org  88014-6
http://loinc.org  53174-9
http://loinc.org  53202-8
http://loinc.org  53199-6
http://loinc.org  88015-3
http://loinc.org  88024-5
http://loinc.org  54475-9
http://loinc.org  53160-8
http://loinc.org  53163-2
http://loinc.org  53162-4
http://loinc.org  53164-0
http://loinc.org  53161-6
http://loinc.org  53241-6
http://loinc.org  53400-8
http://loinc.org  53210-1
http://loinc.org  53190-5
http://loinc.org  53192-1
http://loinc.org  53191-3
http://loinc.org  53193-9
http://loinc.org  53194-7
http://loinc.org  88025-2
http://loinc.org  53195-4
http://loinc.org  70159-9
http://loinc.org  53170-7

Beschreibung der obigen Tabelle(n).