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

ValueSet: MII VS Seltene Erkrankungen NBS Quotienten (Trockenblut)

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

Diagnostische Quotienten aus Trockenblut-Analyten. Im Neugeborenenscreening tragen die Verhältnisse (z. B. C3/C2, Phe/Tyr) einen großen Teil der diagnostischen Trennschärfe, weil sie von der Probenqualität weniger abhängen als Einzelwerte.

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
    53171-53-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS
    53172-33-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
    53201-03-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
    75214-7Arginine/Ornithine [Molar ratio] in DBS
    53398-4Arginine/Phenylalanine [Molar ratio] in DBS
    53200-2Argininosuccinate/Arginine [Molar ratio] in DBS
    45192-2Carnitine esters/Carnitine.free (C0) [Molar ratio] in DBS
    54092-2Citrulline/Arginine [Molar ratio] in DBS
    53157-4Citrulline/Phenylalanine [Molar ratio] in DBS
    53399-2Citrulline/Tyrosine [Molar ratio] in DBS
    104196-1Creatine/Creatinine [Molar ratio] in DBS
    53233-3Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
    53234-1Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] 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
    107506-8Guanidinoacetate/Creatine [Molar ratio] in DBS
    104195-3Guanidinoacetate/Creatinine [Molar ratio] in DBS
    75268-3Leucine/Phenylalanine [Molar ratio] in DBS
    75212-1Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
    53181-4Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
    80154-8Monolysocardiolipin/Cardiolipin [Molar ratio] 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
    75215-4Ornithine/Citrulline [Molar ratio] in DBS
    88015-3Palmitoylcarnitine (C16)/Acetylcarnitine (C2) [Molar ratio] in DBS
    88024-5Palmitoylcarnitine (C16)/Carnitine.free (C0) [Molar ratio] in DBS
    74300-5Phenylalanine/Tyrosine [Molar ratio] in DBS --post therapeutic diet
    35572-7Phenylalanine/Tyrosine [Molar ratio] in DBS
    53392-7Proline/Phenylalanine [Molar ratio] 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
    53156-6Methionine/Phenylalanine [Molar ratio] in DBS
    53400-8Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] 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
    74481-3Tyrosine/Phenylalanine [Molar ratio] in DBS
    74299-9Tyrosine/Phenylalanine [Molar ratio] in DBS --post therapeutic diet
    53151-7Valine/Phenylalanine [Molar ratio] in DBS

 

Expansion

Expansion from 127.0.0.1 based on Loinc v2.83

This value set contains 47 concepts

SystemCodeDisplay (de)JSONXML
http://loinc.org  53171-5
http://loinc.org  53172-3
http://loinc.org  53201-0
http://loinc.org  75214-7
http://loinc.org  53398-4
http://loinc.org  53200-2
http://loinc.org  45192-2
http://loinc.org  54092-2
http://loinc.org  53157-4
http://loinc.org  53399-2
http://loinc.org  104196-1
http://loinc.org  53233-3
http://loinc.org  53234-1
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  107506-8
http://loinc.org  104195-3
http://loinc.org  75268-3
http://loinc.org  75212-1
http://loinc.org  53181-4
http://loinc.org  80154-8
http://loinc.org  53176-4
http://loinc.org  53177-2
http://loinc.org  88014-6
http://loinc.org  75215-4
http://loinc.org  88015-3
http://loinc.org  88024-5
http://loinc.org  74300-5
http://loinc.org  35572-7
http://loinc.org  53392-7
http://loinc.org  53163-2
http://loinc.org  53162-4
http://loinc.org  53164-0
http://loinc.org  53161-6
http://loinc.org  53156-6
http://loinc.org  53400-8
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  74481-3
http://loinc.org  74299-9
http://loinc.org  53151-7

Beschreibung der obigen Tabelle(n).