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. For a full list of available versions, see the Directory of published versions
| Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-ratio-dbs | Version: 2027.0.0-ballot | |||
| Active as of 2026-09-14 | Computable 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)
Profiles: CRMI Shareable ValueSet, CRMI Publishable ValueSet
http://loinc.org version Not Stated (use latest from terminology server)| Code | Display |
| 53171-5 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS |
| 53172-3 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS |
| 53201-0 | 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS |
| 75214-7 | Arginine/Ornithine [Molar ratio] in DBS |
| 53398-4 | Arginine/Phenylalanine [Molar ratio] in DBS |
| 53200-2 | Argininosuccinate/Arginine [Molar ratio] in DBS |
| 45192-2 | Carnitine esters/Carnitine.free (C0) [Molar ratio] in DBS |
| 54092-2 | Citrulline/Arginine [Molar ratio] in DBS |
| 53157-4 | Citrulline/Phenylalanine [Molar ratio] in DBS |
| 53399-2 | Citrulline/Tyrosine [Molar ratio] in DBS |
| 104196-1 | Creatine/Creatinine [Molar ratio] in DBS |
| 53233-3 | Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS |
| 53234-1 | Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS |
| 88016-1 | Glutarylcarnitine (C5-DC)/Acetylcarnitine (C2) [Molar ratio] in DBS |
| 75225-3 | Glutarylcarnitine (C5-DC)/Carnitine (C0) [Molar ratio] in DBS |
| 75216-2 | Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS |
| 75267-5 | Glutarylcarnitine (C5-DC)/Palmitoylcarnitine (C16) [Molar ratio] in DBS |
| 88017-9 | Glutarylcarnitine (C5-DC)/Propionylcarnitine (C3) [Molar ratio] in DBS |
| 107506-8 | Guanidinoacetate/Creatine [Molar ratio] in DBS |
| 104195-3 | Guanidinoacetate/Creatinine [Molar ratio] in DBS |
| 75268-3 | Leucine/Phenylalanine [Molar ratio] in DBS |
| 75212-1 | Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS |
| 53181-4 | Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS |
| 80154-8 | Monolysocardiolipin/Cardiolipin [Molar ratio] in DBS |
| 53176-4 | Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS |
| 53177-2 | Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS |
| 88014-6 | Octanoylcarnitine (C8)/Carnitine.free (C0) [Molar ratio] in DBS |
| 75215-4 | Ornithine/Citrulline [Molar ratio] in DBS |
| 88015-3 | Palmitoylcarnitine (C16)/Acetylcarnitine (C2) [Molar ratio] in DBS |
| 88024-5 | Palmitoylcarnitine (C16)/Carnitine.free (C0) [Molar ratio] in DBS |
| 74300-5 | Phenylalanine/Tyrosine [Molar ratio] in DBS --post therapeutic diet |
| 35572-7 | Phenylalanine/Tyrosine [Molar ratio] in DBS |
| 53392-7 | Proline/Phenylalanine [Molar ratio] in DBS |
| 53163-2 | Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS |
| 53162-4 | Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS |
| 53164-0 | Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS |
| 53161-6 | Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS |
| 53156-6 | Methionine/Phenylalanine [Molar ratio] in DBS |
| 53400-8 | Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS |
| 53193-9 | Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS |
| 53194-7 | Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS |
| 88025-2 | Tetradecenoylcarnitine (C14:1)/Carnitine.free (C0) [Molar ratio] in DBS |
| 53195-4 | Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS |
| 70159-9 | Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS |
| 74481-3 | Tyrosine/Phenylalanine [Molar ratio] in DBS |
| 74299-9 | Tyrosine/Phenylalanine [Molar ratio] in DBS --post therapeutic diet |
| 53151-7 | Valine/Phenylalanine [Molar ratio] in DBS |
Expansion from 127.0.0.1 based on Loinc v2.83
This value set contains 47 concepts
| System | Code | Display (en) | JSON | XML |
http://loinc.org | 53171-5 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS | ||
http://loinc.org | 53172-3 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | ||
http://loinc.org | 53201-0 | 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | ||
http://loinc.org | 75214-7 | Arginine/Ornithine [Molar ratio] in DBS | ||
http://loinc.org | 53398-4 | Arginine/Phenylalanine [Molar ratio] in DBS | ||
http://loinc.org | 53200-2 | Argininosuccinate/Arginine [Molar ratio] in DBS | ||
http://loinc.org | 45192-2 | Carnitine esters/Carnitine.free (C0) [Molar ratio] in DBS | ||
http://loinc.org | 54092-2 | Citrulline/Arginine [Molar ratio] in DBS | ||
http://loinc.org | 53157-4 | Citrulline/Phenylalanine [Molar ratio] in DBS | ||
http://loinc.org | 53399-2 | Citrulline/Tyrosine [Molar ratio] in DBS | ||
http://loinc.org | 104196-1 | Creatine/Creatinine [Molar ratio] in DBS | ||
http://loinc.org | 53233-3 | Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | ||
http://loinc.org | 53234-1 | Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS | ||
http://loinc.org | 88016-1 | Glutarylcarnitine (C5-DC)/Acetylcarnitine (C2) [Molar ratio] in DBS | ||
http://loinc.org | 75225-3 | Glutarylcarnitine (C5-DC)/Carnitine (C0) [Molar ratio] in DBS | ||
http://loinc.org | 75216-2 | Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS | ||
http://loinc.org | 75267-5 | Glutarylcarnitine (C5-DC)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | ||
http://loinc.org | 88017-9 | Glutarylcarnitine (C5-DC)/Propionylcarnitine (C3) [Molar ratio] in DBS | ||
http://loinc.org | 107506-8 | Guanidinoacetate/Creatine [Molar ratio] in DBS | ||
http://loinc.org | 104195-3 | Guanidinoacetate/Creatinine [Molar ratio] in DBS | ||
http://loinc.org | 75268-3 | Leucine/Phenylalanine [Molar ratio] in DBS | ||
http://loinc.org | 75212-1 | Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | ||
http://loinc.org | 53181-4 | Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | ||
http://loinc.org | 80154-8 | Monolysocardiolipin/Cardiolipin [Molar ratio] in DBS | ||
http://loinc.org | 53176-4 | Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS | ||
http://loinc.org | 53177-2 | Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS | ||
http://loinc.org | 88014-6 | Octanoylcarnitine (C8)/Carnitine.free (C0) [Molar ratio] in DBS | ||
http://loinc.org | 75215-4 | Ornithine/Citrulline [Molar ratio] in DBS | ||
http://loinc.org | 88015-3 | Palmitoylcarnitine (C16)/Acetylcarnitine (C2) [Molar ratio] in DBS | ||
http://loinc.org | 88024-5 | Palmitoylcarnitine (C16)/Carnitine.free (C0) [Molar ratio] in DBS | ||
http://loinc.org | 74300-5 | Phenylalanine/Tyrosine [Molar ratio] in DBS --post therapeutic diet | ||
http://loinc.org | 35572-7 | Phenylalanine/Tyrosine [Molar ratio] in DBS | ||
http://loinc.org | 53392-7 | Proline/Phenylalanine [Molar ratio] in DBS | ||
http://loinc.org | 53163-2 | Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS | ||
http://loinc.org | 53162-4 | Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS | ||
http://loinc.org | 53164-0 | Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | ||
http://loinc.org | 53161-6 | Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS | ||
http://loinc.org | 53156-6 | Methionine/Phenylalanine [Molar ratio] in DBS | ||
http://loinc.org | 53400-8 | Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS | ||
http://loinc.org | 53193-9 | Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS | ||
http://loinc.org | 53194-7 | Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS | ||
http://loinc.org | 88025-2 | Tetradecenoylcarnitine (C14:1)/Carnitine.free (C0) [Molar ratio] in DBS | ||
http://loinc.org | 53195-4 | Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | ||
http://loinc.org | 70159-9 | Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS | ||
http://loinc.org | 74481-3 | Tyrosine/Phenylalanine [Molar ratio] in DBS | ||
http://loinc.org | 74299-9 | Tyrosine/Phenylalanine [Molar ratio] in DBS --post therapeutic diet | ||
http://loinc.org | 53151-7 | Valine/Phenylalanine [Molar ratio] in DBS |