LL837-6
NBS AA susc
Active
Basic Properties
- OID
- 1.3.6.1.4.1.12009.10.1.3269
- Name
- NBS AA susc
- Description
- Newborn screening amino 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 | ||
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| Maple syrup urine diseaseCopyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | LA21168-2 | ||
| Argininemia | LA21161-7 | ||
| Argininosuccinic aciduria | LA21162-5 | ||
| Carbamoyl-phosphate synthase deficiencyCopyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | LA12484-4 | ||
| Citrullinemia, type ICopyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | LA12482-8 | ||
| Citrullinemia, type IICopyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | LA12483-6 | ||
| Dihydrolipoamide dehydrogenase deficiencyCopyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | LA12490-1 | ||
| Biopterin defect in cofactor biosynthesisCopyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | LA12472-9 | ||
| Biopterin defect in cofactor regenerationCopyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | LA12473-7 | ||
| Girate atrophy of the retinaCopyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | LA12502-3 | ||
| HypermethioninemiaCopyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | LA12512-2 | ||
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeCopyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | LA12497-6 | ||
| Hyperphenylalaninemia (variant, benign)Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | LA12500-7 | ||
| Hyperprolinemia type ICopyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | LA12521-3 | ||
| Hyperprolinemia type IICopyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | LA12522-1 | ||
| Cobalamin E diseaseCopyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | LA12480-2 | ||
| Guanidinoacetate N-methyltransferase deficiencyCopyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | LA30113-7 | ||
| L-arginine:glycine amidinotransferase deficiencyCopyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | LA30114-5 | ||
| Methylene tetrahydrofolate reductase deficiencyCopyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | LA12514-8 | ||
| Nonketotic hyperglycinemia (glycine encephalopathy)Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | LA12516-3 | ||
| Ornithine transcarbamylase deficiencyCopyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | LA12518-9 | ||
| Classic phenylketonuriaCopyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | LA12520-5 | ||
| Pyroglutamic acidemiaCopyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | LA12469-5 | ||
| Pyruvate carboxylase deficiencyCopyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | LA12519-7 | ||
| Tyrosinemia, type ICopyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | LA12528-8 | ||
| Tyrosinemia, type IICopyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | LA12529-6 | ||
| Tyrosinemia, type IIICopyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | LA12530-4 | ||
| ValinemiaCopyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | LA12503-1 | ||
| X-linked creatine transporter (CRTR) deficiencyCopyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | LA30492-5 |
LOINC terms using this Answer List
| 57793-2 | Amino acidemia disorder 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/$lookup?system=http: //loinc.org&code=LL837-6 - ValueSet definition
- https:
//fhir.loinc.org/ValueSet/?url=http: //loinc.org/vs/LL837-6 - ValueSet expansion
- https:
//fhir.loinc.org/ValueSet/$expand?url=http: //loinc.org/vs/LL837-6
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