LL839-2
NBS OA susc
Active
Basic Properties
- OID
- 1.3.6.1.4.1.12009.10.1.3271
- Name
- NBS OA susc
- Description
- Newborn screening organic acidemias suspected
- LOINCs using this list
- 1
Answer List
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| NoneCopyright http://snomed.info/sct ID:260413007 None (qualifier value) Screen time |
LA137-2 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| Glutaric acidemia type ICopyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | LA12493-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| Malonic acidemiaCopyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | LA12508-0 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 2-Methyl-3-hydroxybutyric aciduriaCopyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-MethylbutyrylglycinuriaCopyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | LA12465-3 | ||
| 3-Hydroxy-3-methylglutaric aciduriaCopyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | LA12499-2 | ||
| 3-Methylcrotonyl-CoA carboxylase deficiencyCopyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | LA12466-1 | ||
| Beta-ketothiolase deficiencyCopyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | LA12474-5 | ||
| Ethylmalonic encephalopathyCopyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | LA12491-9 | ||
| Formiminoglutamic acidemiaCopyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | LA12492-7 | ||
| IsobutyrylglycinuriaCopyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | LA12504-9 | ||
| Isovaleric acidemiaCopyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | LA12505-6 | ||
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal)Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | LA12467-9 | ||
| Cobalamin A diseaseCopyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | LA12476-0 | ||
| Cobalamin B diseaseCopyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | LA12477-8 | ||
| Methylmalonic acidemiaCopyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | LA12515-5 | ||
| Cobalamin C diseaseCopyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | LA12478-6 | ||
| Cobalamin D diseaseCopyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | LA12479-4 | ||
| Holoocarboxylase synthase deficiencyCopyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | LA12510-6 | ||
| Primary lactic acidemiaCopyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LA12506-4 | ||
| Propionic acidemiaCopyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | LA12523-9 | ||
| Succinyl-CoA ligase deficiencyCopyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | LA12526-2 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| GA-1 or GA-2 | LA12917-3 |
LOINC terms using this Answer List
| 57791-6 | Organic acidemia conditions suspected [Identifier] in DBS |
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/$lookup?system=http: //loinc.org&code=LL839-2 - ValueSet definition
- https:
//fhir.loinc.org/ValueSet/?url=http: //loinc.org/vs/LL839-2 - ValueSet expansion
- https:
//fhir.loinc.org/ValueSet/$expand?url=http: //loinc.org/vs/LL839-2
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