MII VS Seltene Erkrankungen NBS Aminosäuren (Trockenblut) - MII IG Kerndatensatz-Modul Seltene Erkrankungen v2027.0.0-ballot

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 Aminosäuren (Trockenblut)

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

Aminosäure-Analyte in Trockenblut — die Messgrößen des MS/MS-Aminosäureprofils im Neugeborenenscreening (Phenylketonurie, Ahornsirupkrankheit, Homocystinurie, Tyrosinämie, Harnstoffzyklusdefekte). Abgeleitet aus der LOINC-SNOMED-Ontologie und deshalb NICHT vollständig gegenüber LOINC; 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)

Profiles: CRMI Shareable ValueSet, CRMI Publishable ValueSet

Include these codes as defined in http://loinc.org version Not Stated (use latest from terminology server)

Code	Display
50065-2	1-Methylhistidine [Moles/volume] in DBS
47559-0	Alpha aminobutyrate [Moles/volume] in DBS
53064-2	Beta aminoisobutyrate [Moles/volume] in DBS
47539-2	3-Methylhistidine [Moles/volume] in DBS
47551-7	Alanine [Moles/volume] in DBS
47556-6	Alanine/Amino acids.total in DBS
88018-7	Alanine/Lysine [Mass Ratio] in DBS
94572-5	Alloisoleucine [Moles/volume] in DBS
74875-6	Alloisoleucine [Moles/volume] in DBS --post therapeutic diet
50083-5	Alpha aminoadipate [Moles/volume] in DBS
47562-4	Arginine [Moles/volume] in DBS
74876-4	Arginine [Moles/volume] in DBS --post therapeutic diet
43927-3	Arginine [Presence] in DBS
47567-3	Arginine/Amino acids.total in DBS
75214-7	Arginine/Ornithine [Molar ratio] in DBS
53398-4	Arginine/Phenylalanine [Molar ratio] in DBS
74877-2	Argininosuccinate [Moles/volume] in DBS --post therapeutic diet
53062-6	Argininosuccinate [Moles/volume] in DBS
53200-2	Argininosuccinate/Arginine [Molar ratio] in DBS
47572-3	Asparagine [Moles/volume] in DBS
53063-4	Beta alanine [Moles/volume] in DBS
38480-0	Carnitine [Moles/volume] in DBS
42892-0	Citrulline [Moles/volume] 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
53066-7	Cystathionine [Moles/volume] in DBS
38481-8	Carnitine free (C0) [Moles/volume] in DBS
74878-0	Carnitine free (C0) [Moles/volume] in DBS --post therapeutic diet
53095-6	Carnitine free (C0)/Carnitine.total in DBS
53233-3	Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
53234-1	Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS
47630-9	Glutamine [Moles/volume] in DBS
47633-3	Glycine [Moles/volume] in DBS
47638-2	Glycine/Amino acids.total in DBS
93488-5	Guanidinoacetate [Moles/volume] in DBS
107506-8	Guanidinoacetate/Creatine [Molar ratio] in DBS
104195-3	Guanidinoacetate/Creatinine [Molar ratio] in DBS
47643-2	Histidine [Moles/volume] in DBS
47648-1	Histidine/Amino acids.total in DBS
53158-2	Homocitrulline [Moles/volume] in DBS
44376-2	Homocysteine [Presence] in DBS
54301-7	Homocysteine [Moles/volume] in DBS
38486-7	Homocystine [Presence] in DBS
54302-5	Homocystine [Moles/volume] in DBS
54303-3	Hydroxylysine [Moles/volume] in DBS
74880-6	Hydroxyproline [Moles/volume] in DBS --post therapeutic diet
47651-5	Hydroxyproline [Moles/volume] in DBS
74881-4	Isoleucine [Moles/volume] in DBS --post therapeutic diet
47671-3	Isoleucine [Moles/volume] in DBS
47676-2	Isoleucine/Amino acids.total in DBS
47679-6	Leucine [Moles/volume] in DBS
74882-2	Leucine [Moles/volume] in DBS --post therapeutic diet
57994-6	Leucine/Alanine [Mass Ratio] in DBS
47684-6	Leucine/Amino acids.total in DBS
75268-3	Leucine/Phenylalanine [Molar ratio] in DBS
57995-3	Leucine/Phenylalanine [Mass Ratio] in DBS
47689-5	Lysine [Moles/volume] in DBS
47694-5	Lysine/Amino acids.total in DBS
74883-0	Ornithine [Moles/volume] in DBS --post therapeutic diet
47714-1	Ornithine [Moles/volume] in DBS
75215-4	Ornithine/Citrulline [Molar ratio] in DBS
109502-5	Phenylalanine [Measurement] in DBS
29572-5	Phenylalanine [Mass/volume] in DBS
74303-9	Phenylalanine [Moles/volume] in DBS --post therapeutic diet
29573-3	Phenylalanine [Moles/volume] in DBS
29571-7	Phenylalanine [Presence] in DBS
55969-0	Phenylalanine/Amino acids.total in DBS
74300-5	Phenylalanine/Tyrosine [Molar ratio] in DBS --post therapeutic diet
35572-7	Phenylalanine/Tyrosine [Molar ratio] in DBS
54489-0	Phosphoserine [Moles/volume] in DBS
54328-0	Pipecolate [Moles/volume] in DBS
47732-3	Proline [Moles/volume] in DBS
47736-4	Proline/Amino acids.total in DBS
53392-7	Proline/Phenylalanine [Molar ratio] in DBS
47700-0	Methionine [Moles/volume] in DBS
63380-0	Methionine [Presence] in DBS
47705-9	Methionine/Amino acids.total in DBS
53156-6	Methionine/Phenylalanine [Molar ratio] in DBS
47742-2	Serine [Moles/volume] in DBS
47747-1	Serine/Amino acids.total in DBS
47782-8	Taurine [Moles/volume] in DBS
47784-4	Threonine [Moles/volume] in DBS
47789-3	Threonine/Amino acids.total in DBS
79330-7	Trimethyllysine [Moles/volume] in DBS
53159-0	Tryptophan [Moles/volume] in DBS
35571-9	Tyrosine [Moles/volume] in DBS
45032-0	Tyrosine [Mass/volume] in DBS
74302-1	Tyrosine [Moles/volume] in DBS --post therapeutic diet
47796-8	Tyrosine/Amino acids.total in DBS
74481-3	Tyrosine/Phenylalanine [Molar ratio] in DBS
74299-9	Tyrosine/Phenylalanine [Molar ratio] in DBS --post therapeutic diet
74884-8	Valine [Moles/volume] in DBS --post therapeutic diet
47799-2	Valine [Moles/volume] in DBS
47804-0	Valine/Amino acids.total in DBS
53151-7	Valine/Phenylalanine [Molar ratio] in DBS

Expansion

Expansion from 127.0.0.1 based on Loinc v2.83

This value set contains 96 concepts

System	Code	Display (de)	JSON	XML
`http://loinc.org`	50065-2
`http://loinc.org`	47559-0
`http://loinc.org`	53064-2
`http://loinc.org`	47539-2
`http://loinc.org`	47551-7
`http://loinc.org`	47556-6
`http://loinc.org`	88018-7
`http://loinc.org`	94572-5
`http://loinc.org`	74875-6
`http://loinc.org`	50083-5
`http://loinc.org`	47562-4
`http://loinc.org`	74876-4
`http://loinc.org`	43927-3
`http://loinc.org`	47567-3
`http://loinc.org`	75214-7
`http://loinc.org`	53398-4
`http://loinc.org`	74877-2
`http://loinc.org`	53062-6
`http://loinc.org`	53200-2
`http://loinc.org`	47572-3
`http://loinc.org`	53063-4
`http://loinc.org`	38480-0
`http://loinc.org`	42892-0
`http://loinc.org`	54092-2
`http://loinc.org`	53157-4
`http://loinc.org`	53399-2
`http://loinc.org`	53066-7
`http://loinc.org`	38481-8
`http://loinc.org`	74878-0
`http://loinc.org`	53095-6
`http://loinc.org`	53233-3
`http://loinc.org`	53234-1
`http://loinc.org`	47630-9
`http://loinc.org`	47633-3
`http://loinc.org`	47638-2
`http://loinc.org`	93488-5
`http://loinc.org`	107506-8
`http://loinc.org`	104195-3
`http://loinc.org`	47643-2
`http://loinc.org`	47648-1
`http://loinc.org`	53158-2
`http://loinc.org`	44376-2
`http://loinc.org`	54301-7
`http://loinc.org`	38486-7
`http://loinc.org`	54302-5
`http://loinc.org`	54303-3
`http://loinc.org`	74880-6
`http://loinc.org`	47651-5
`http://loinc.org`	74881-4
`http://loinc.org`	47671-3
`http://loinc.org`	47676-2
`http://loinc.org`	47679-6
`http://loinc.org`	74882-2
`http://loinc.org`	57994-6
`http://loinc.org`	47684-6
`http://loinc.org`	75268-3
`http://loinc.org`	57995-3
`http://loinc.org`	47689-5
`http://loinc.org`	47694-5
`http://loinc.org`	74883-0
`http://loinc.org`	47714-1
`http://loinc.org`	75215-4
`http://loinc.org`	109502-5
`http://loinc.org`	29572-5
`http://loinc.org`	74303-9
`http://loinc.org`	29573-3
`http://loinc.org`	29571-7
`http://loinc.org`	55969-0
`http://loinc.org`	74300-5
`http://loinc.org`	35572-7
`http://loinc.org`	54489-0
`http://loinc.org`	54328-0
`http://loinc.org`	47732-3
`http://loinc.org`	47736-4
`http://loinc.org`	53392-7
`http://loinc.org`	47700-0
`http://loinc.org`	63380-0
`http://loinc.org`	47705-9
`http://loinc.org`	53156-6
`http://loinc.org`	47742-2
`http://loinc.org`	47747-1
`http://loinc.org`	47782-8
`http://loinc.org`	47784-4
`http://loinc.org`	47789-3
`http://loinc.org`	79330-7
`http://loinc.org`	53159-0
`http://loinc.org`	35571-9
`http://loinc.org`	45032-0
`http://loinc.org`	74302-1
`http://loinc.org`	47796-8
`http://loinc.org`	74481-3
`http://loinc.org`	74299-9
`http://loinc.org`	74884-8
`http://loinc.org`	47799-2
`http://loinc.org`	47804-0
`http://loinc.org`	53151-7

Beschreibung der obigen Tabelle(n).

IG © 2022+ Medizininformatik Initiative. Package de.medizininformatikinitiative.kerndatensatz.seltene#2027.0.0-ballot basiert auf FHIR 4.0.1. Erstellt 2026-09-14
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