LL838-4
NBS FA susc
Active
Basic Properties
- OID
- 1.3.6.1.4.1.12009.10.1.3270
- Name
- NBS FA susc
- Description
- Newborn screening fatty acid oxidation defects 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 | ||
| Carnitine palmitoyltransferase type I deficiencyCopyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | LA12485-1 | ||
| Carnitine uptake deficiency/carnitine transport defectCopyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | LA12487-7 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| Medium-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12509-8 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| Very long-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12531-2 | ||
| 2,4-Dienoyl-CoA reductase deficiencyCopyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | LA12489-3 | ||
| Carnitine acylcarnitine translocase deficiencyCopyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | LA12475-2 | ||
| Carnitine palmitoyltransferase type II deficiencyCopyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | LA12486-9 | ||
| Glutaric acidemia type IICopyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | LA12495-0 | ||
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LA12507-2 | ||
| Carnitine uptake deficiency/carnitine transport defect (maternal)Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | LA12488-5 | ||
| Medium-chain ketoacyl-CoA thiolase deficiencyCopyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | LA12511-4 | ||
| Short-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | LA12525-4 | ||
| Trifunctional protein deficiencyCopyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | LA12527-0 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| X-linked adrenoleukodystrophyCopyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | LA25796-6 |
LOINC terms using this Answer List
| 57792-4 | Fatty acid oxidation 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/$lookup?system=http: //loinc.org&code=LL838-4 - ValueSet definition
- https:
//fhir.loinc.org/ValueSet/?url=http: //loinc.org/vs/LL838-4 - ValueSet expansion
- https:
//fhir.loinc.org/ValueSet/$expand?url=http: //loinc.org/vs/LL838-4
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