LOINC
Version 2.70

LL837-6NBS AA susc / Newborn screening amino acidemias suspectedActive

Basic Properties

OID
1.3.6.1.4.1.12009.10.1.3269
Name
NBS AA susc
Description
Newborn screening amino acidemias suspected
Externally Defined
False
Answers Shown
34
LOINCs Using This List
1
Source Name
Regenstrief Institute

Answer List

Answer Code Score Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) 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 disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) LA21168-2
Argininemia LA21161-7
Argininosuccinic aciduria LA21162-5
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) LA12484-4
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) LA12483-6
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) LA12490-1
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) LA12473-7
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) LA12502-3
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) LA12512-2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright 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 I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) LA12522-1
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) LA12480-2
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) LA30114-5
Methylene tetrahydrofolate reductase deficiency Copyright 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 deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) LA12518-9
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) LA12520-5
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) LA12469-5
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) LA12519-7
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) LA12530-4
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) LA12503-1
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) LA30492-5

LOINC FHIR® API Examples - CodeSystem and ValueSet Requests Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LL837-6 https://fhir.loinc.org/ValueSet/?url=http://loinc.org/vs/LL837-6

LOINC Terms That Use This Answer List

57793-2 Amino acidemia disorder suspected [Identifier] in DBS