104192-0
Guanidinoacetate methyltransferase deficiency newborn screen interpretation
Active
Fully-Specified Name
- Component
- Guanidinoacetate methyltransferase deficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Long Common Name
- Guanidinoacetate methyltransferase deficiency newborn screen interpretation
- Short Name
- GAMT DBS-Imp
- Display Name
- Guanidinoacetate methyltransferase deficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Guanidinoacetate methyltransferase deficiency, Dried blood spot
Example Answer List: LL6931-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Borderline | LA4259-3 | ||
| IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| One or more tests pending | LA16204-2 | ||
| Screen Negative | LA34518-3 | ||
| Screen Positive | LA34519-1 | ||
| Specimen unacceptable for at least one condition | LA34520-9 | ||
| InconclusiveCopyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) | LA9663-1 | ||
| Not tested | LA13538-6 |
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77 (ADD)
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης: Synonyms: Imp |
| es-ES | Spanish (Spain) | Deficiencia de guanidinoacetato metiltransferasa: |
| fr-FR | French (France) | Guanidinoacétate méthyltransférase (GAMT) carence: |
| it-IT | Italian (Italy) | Deficit di guanidinoacetato-metiltransferasi: Synonyms: Chimica Deficit di GAMT Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | deficiëntie van guanidinoacetaatmethyltransferase: Synonyms: guanidinoacetaatmethyltransferasedeficiëntie |
| zh-CN | Chinese (China) | 胍基乙酸甲基转移酶缺陷: Synonyms: GAA; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=104192-0
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