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Conditions View

The Conditions View presents the conditions you selected on a previous screen, and for each condition, the related Enzyme Commission code (when applicable), the Category, and International Classification of Diseases, Ninth and Tenth Revisions, Clinical Modification (ICD-9-CM and ICD-10-CM) codes.

   
Condition1
Choose condition to view related measurements
Abbreviation1Category2SNOMED CT Code3ICD-9-​CM Code4ICD-10-​CM Code5Affected Protein6EC#7UniProt Number8
Conditions screened by Point of Care Testing
 Hearing Loss
   Hearing LossHEARCore
15188001
389.9
H91.90
N/A
N/A
N/A
 Critical Congenital Heart Disease
   Critical congenital heart diseaseCCHDCore
13213009
204297006
204342004
204354004
204456001
204457005
26146002
61959006
62067003
86299006
745.0
745.10
745.2
746.01
746.1
746.7
747.41
Q20.0
Q20.3
Q21.3
Q22.0
Q22.4
Q23.4
Q26.2
N/A
N/A
N/A
MS/MS (Tandem Mass Spectrometry) Measured Conditions
 Amino Acid Disorders
   ArgininemiaARGSecondary
23501004
270.6
E72.21
Arginase
3.5.3.1
P05089
P78540
   Argininosuccinic aciduriaASACore
41013004
270.6
E72.22
Argininosuccinate lyase
4.3.2.1
P04424
   Carbamoyl-phosphate synthase deficiencyCPSOther
62522004
270.6
E72.29
Carbamoyl-phosphate synthase (ammonia)
6.3.4.16
P31327
   Citrullinemia type ICIT-ICore
398680004
270.6
E72.23
Argininosuccinate synthase
6.3.4.5
P00966
   Citrullinemia type IICIT-IISecondary
30529005
270.6
E72.23
Calcium-binding mitochondrial carrier protein Aralar2
None
Q9UJS0
   Dihydrolipoamide dehydrogenase deficiencyE3Other
29914000
270.3
E71.0
Dihydrolipoyl dehydrogenase
1.8.1.4
P09622
   Disorders of biopterin biosynthesisBIOPT-BSSecondary
237914002
270.1
E70.1
6-pyruvoyltetrahydropterin synthase
4.2.3.12
Q03393
   Disorders of biopterin regenerationBIOPT-REGSecondary
58256000
270.1
E70.1
6,7-dihydropteridine reductase
1.5.1.34
P09417
   Girate atrophy of the retinaHyper ORNOther
314467007
270.6
H31.23
Ornithine aminotransferase
2.6.1.13
P04181
   HistidinemiaHISOther
410058007
270.5
E70.41
Histidine ammonia-lyase
4.3.1.3
P42357
   HomocystinuriaHCYCore
11282001
270.4
E72.11
Cystathionine beta-synthase
4.2.1.22
P35520
   Homocystinuria-megaloblastic anemiaCBL GOther
237938003
270.4
E72.11
Methionine synthase
2.1.1.13
Q99707
   HydroxyprolinemiaOH PROOther
25739007
270.8
E72.59
4-oxoproline reductase
1.1.1.104
None
   HyperlysinemiaHyper LYSOther
58558003
270.7
E72.3
Saccharopine dehydrogenase (NADP(+), L-lysine-forming)
1.5.1.8
Q9UDR5
   HypermethioninemiaMETSecondary
43123004
270.4
E72.19
Methionine adenosyltransferase
2.5.1.6
P31153
Q00266
   Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndromeHHHOther
30287008
270.6
E72.4
Mitochondrial ornithine transporter 1
None
Q9Y619
   Hyperphenylalaninemia (variant, benign)H-PHESecondary
68528007
270.1
E70.1
Phenylalanine 4-monooxygenase
1.14.16.1
P00439
   Hyperprolinemia type IPRO IOther
61071003
270.8
E72.59
Proline dehydrogenase
1.5.99.8
O43272
Q9UF12
   Hyperprolinemia type IIPRO IIOther
124177001
270.8
E72.59
1-pyrroline-5-carboxylate dehydrogenase
1.5.1.12
P30038
   Maple syrup urine diseaseMSUDCore
27718001
270.3
E71.0
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)
1.2.4.4
P12694
P21953
   Methylcobalamin deficiencyCBL EOther
360373000
270.4
E72.11
[Methionine synthase] reductase
1.16.1.8
Q9UBK8
   Methylene tetrahydrofolate reductase deficiencyMTHFROther
41797007
270.4
E72.12
Methylenetetrahydrofolate reductase (NAD(P)H)
1.5.1.20
P42898
   Nonketotic hyperglycinemia (glycine encephalopathy)NKHGOther
237939006
270.7
E72.51
Glycine cleavage system H protein, mitochondrial
None
P23434
   Ornithine transcarbamylase deficiencyOTCOther
80908008
270.6
E72.4
Ornithine carbamoyltransferase
2.1.3.3
P00480
   PhenylketonuriaPKUCore
7573000
270.1
E70.0
Phenylalanine 4-monooxygenase
1.14.16.1
P00439
   Pyroglutamic acidemia5-OXOOther
39112005
282.2
D55.1
Glutathione synthase
6.3.2.3
P48637
   Pyruvate carboxylase deficiencyPCOther
87694001
271.8
E74.4
Pyruvate carboxylase
6.4.1.1
P11498
   Tyrosinemia type ITYR-1Core
410056006
270.2
E70.21
Fumarylacetoacetase
3.7.1.2
P16930
   Tyrosinemia type IITYR-IISecondary
4887000
270.2
E70.21
Tyrosine transaminase
2.6.1.5
P17735
   Tyrosinemia type IIITYR-IIISecondary
415764005
270.2
E70.21
4-hydroxyphenylpyruvate dioxygenase
1.13.11.27
P32754
   ValinemiaHyper VALOther
47719001
270.3
E71.19
Branched-chain-amino-acid transaminase
2.6.1.42
O15382
P54687
 Fatty Acid Oxidation Disorders
   2,4-Dienoyl-CoA reductase deficiencyDe-RedSecondary
444944006
277.85
E71.318
2,4-dienoyl-CoA reductase (NADPH)
1.3.1.34
Q16698
Q9NUI1
   Carnitine palmitoyltransferase I deficiencyCPT-IaSecondary
238001003
277.85
E71.318
Carnitine O-palmitoyltransferase
2.3.1.21
P23786
P50416
Q8TCG5
Q92523
   Carnitine palmitoyltransferase II deficiencyCPT-IISecondary
238002005
277.85
E71.318
Carnitine O-palmitoyltransferase
2.3.1.21
P23786
P50416
Q8TCG5
Q92523
   Carnitine uptake defectCUDCore
21764004
277.81
E71.41
Solute carrier family 22 member 5
None
O76082
   Carnitine-acylcarnitine translocase deficiencyCACTSecondary
238003000
277.85
E71.318
Carnitine O-palmitoyltransferase
2.3.1.21
P23786
P50416
Q8TCG5
Q92523
   Glutaric acidemia type IIGA-2Secondary
22886006
277.85
E71.313
Electron-transferring-flavoprotein dehydrogenase
1.5.5.1
Q16134
   Long-chain L-3-Hydroxy acyl-CoA dehydrogenase deficiencyLCHADCore
307127004
277.85
E71.318
Long-chain-3-hydroxyacyl-CoA dehydrogenase
1.1.1.211
P40939
   Maternal carnitine uptake defectCUD (mat)Other
206001006
760.9
P00.89
Solute carrier family 22 member 5
None
O76082
   Medium-chain acyl-CoA dehydrogenase deficiencyMCADCore
128596003
277.85
E71.311
Acyl-CoA dehydrogenase
1.3.99.3
P11310
   Medium-chain ketoacyl-CoA thiolase deficiencyMCKATSecondary
124265004
277.85
E71.318
Acetyl-CoA C-acyltransferase
2.3.1.16
P09110
P42765
P55084
   Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiencySCHADSecondary
237998000
277.85
E71.318
3-hydroxyacyl-CoA dehydrogenase
1.1.1.35
Q08426
Q16836
Q99714
   Short-chain acyl-CoA dehydrogenase deficiencySCADSecondary
124166007
277.85
E71.312
Butyryl-CoA dehydrogenase
1.3.8.1
P16219
   Trifunctional protein deficiencyTFPCore
237999008
277.85
E71.318
Long-chain-3-hydroxyacyl-CoA dehydrogenase
1.1.1.211
P40939
   Very long-chain acyl-CoA dehydrogenase deficiencyVLCADCore
237997005
277.85
E71.310
Long-chain-acyl-CoA dehydrogenase
1.3.99.13
P28330
   X-linked AdrenoleukodystrophyX-ALDCore
65389002
277.9
E71.520
E71.522
E71.528
E71.529
ATP-binding cassette sub-family D member 1
N/A
P33897
 Organic Acid Disorders
   2-Methyl-3-hydroxybutyric aciduria2M3HBASecondary
791000124107
270.3
E71.19
3-hydroxy-2-methylbutyryl-CoA dehydrogenase
1.1.1.178
Q99714
   2-Methylbutyrylglycinuria2MBGSecondary
445596006
270.3
E71.19
3-hydroxyacyl-CoA dehydrogenase
1.1.1.35
Q99714
   3-Hydroxy-3-methylglutaric aciduriaHMGCore
410059004
270.3
E71.118
Hydroxymethylglutaryl-CoA lyase
4.1.3.4
P35914
Q8TB92
   3-Methylcrotonyl-CoA carboxylase deficiency3-MCCCore
13144005
270.3
E71.19
Methylcrotonoyl-CoA carboxylase
6.4.1.4
Q96RQ3
Q9HCC0
   3-Methylglutaconic aciduria3MGASecondary
297235006
270.3
E71.111
Methylglutaconyl-CoA hydratase
4.2.1.18
Q13825
   Ethylmalonic encephalopathyEMAOther
811000124106
277.87
E88.49
Electron-transferring-flavoprotein dehydrogenase
1.5.5.1
Q16134
   Formiminoglutamic acidemiaFIGLUOther
59761008
270.5
E70.49
Glutamate formimidoyltransferase
2.1.2.5
O95954
   Glutaric acidemia type IGA-1Core
76175005
270.7
E72.3
Glutaryl-CoA dehydrogenase
1.3.99.7
Q92947
   IsobutyrylglycinuriaIBGSecondary
445571008
270.3
E71.19
3-hydroxybutyryl-CoA dehydrogenase
1.1.1.157
None
   Isovaleric acidemiaIVACore
87827003
270.3
E71.110
Isovaleryl-CoA dehydrogenase
1.3.99.10
P26440
   Malonic acidemiaMALSecondary
124594007
277.85
E71.39
Malonyl-CoA decarboxylase
4.1.1.9
O95822
   Maternal 3-Methylcrotonyl-CoA carboxylase deficiency3-MCC (mat)Other
206001006
760.9
P00.89
Methylcrotonoyl-CoA carboxylase
6.4.1.4
Q96RQ3
Q9HCC0
   Maternal glutaric acidemia type IGA-1 (mat)Other
206001006
760.9
P00.89
Glutaryl-CoA dehydrogenase
1.3.99.7
Q92947
   Methylmalonic acidemiaCBL ACore
73843004
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
   Methylmalonic acidemiaCBL BCore
82245003
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
   Methylmalonic acidemiaMUTCore
124680001
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
   Methylmalonic aciduria and homocystinuriaCBL CSecondary
74653006
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
   Methylmalonic aciduria and homocystinuriaCBL DSecondary
31220004
270.3
E71.120
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
None
Q9H3L0
   Multiple carboxylase deficiencyMCDCore
360369003
270.3
D81.818
Biotin--[methylcrotonoyl-CoA-carboxylase] ligase
6.3.4.11
P50747
   Primary lactic acidemia (various types)LACTICOther
190882007
276.2
E87.2
various enzymes
N/A
N/A
   Propionic acidemiaPROPCore
69080001
270.3
E71.121
Propionyl-CoA carboxylase
6.4.1.3
P05165
P05166
   Succinyl-CoA ligase deficiencySUCLA2Other
445275003
277.87
E88.40
Succinate--CoA ligase (ADP-forming)
6.2.1.5
Q9P2R7
   beta-Ketothiolase deficiencyBKTCore
237953006
270.3
E71.19
Acetyl-CoA C-acyltransferase
2.3.1.16
P09110
P42765
P55084
Non MS/MS Measured Conditions
 Cystic Fibrosis
   Cystic fibrosisCFCore
190905008
277.00
E84
Cystic fibrosis transmembrane conductance regulator
N/A
P13569
 Endocrine Disorders
  Adrenal Hyperplasia
   Congenital Adrenal Hyperplasia (11-beta monooxygenase)CAH (11B-OHD)Other
124214007
255.2
E25.0
Steroid 11-beta-monooxygenase
1.14.15.4
P15538
P19099
   Congenital Adrenal Hyperplasia (non-classical)CAH (NC)Core
237754008
255.2
E25.0
Steroid 21-monooxygenase
1.14.99.10
P08686
   Congenital Adrenal Hyperplasia (salt-wasting)CAH (SW)Core
71578002
255.2
E25.0
Steroid 21-monooxygenase
1.14.99.10
P08686
   Congenital Adrenal Hyperplasia (simple virilizing)CAH (SV)Core
52604008
255.2
E25.0
Steroid 21-monooxygenase
1.14.99.10
P08686
  Thyroid Disorders
   Primary Congenital HypothyroidismCHCore
190268003
243
E03.1
Thyrotropin receptor
N/A
P16473
   Secondary Congenital HypothyroidismCH2Other
82598004
243
E03.1
Thyrotropin subunit beta
N/A
P01222
   Thyroid-Binding Globulin DeficiencyTBGOther
237544006
246.8
E07.89
Thyrotropin subunit beta
TSHR protein
N/A
P01222
Q0VAP8
 Hemoglobin Disorders
  Hemoglobinopathies
   Hb C beta-thalassemiaHb F,C,ASecondary
61777009
282.49
D56.9
Hemoglobin subunit beta
N/A
P68871
   Hb C-diseaseHb F,CSecondary
51053007
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
   Hb D beta-thalassemiaHb F,D,ASecondary
47047009
282.49
D56.9
Hemoglobin subunit beta
N/A
P68871
   Hb E beta-thalassemiaHb F,E,ASecondary
234392002
282.49
D56.9
Hemoglobin subunit beta
N/A
P68871
   Hb E-diseaseHb F,ESecondary
25065001
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
   Hb H-diseaseHb F,HSecondary
48553001
282.49
D56.0
Hemoglobin subunit beta
N/A
P68871
   Hb S O-Arab diseaseHb F,S,O-ArabSecondary
127048005
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
   Hb S Other than A,C,D,E,O-ArabHb F,S and other than A,C,D,E,O-ArabSecondary
23269001
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
   Hb S beta-thalassemiaHb F,S,ACore
127041004
282.41
D57.40
Hemoglobin subunit beta
N/A
P68871
   Hb SC-diseaseHb F,S,CCore
35434009
282.63
D57.20
Hemoglobin subunit beta
N/A
P68871
   Hb SD-diseaseHb F,S,DSecondary
25472008
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
   Hb SE-diseaseHb F,S,ESecondary
47024008
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
   Hb SS-disease (sickle cell anemia)Hb F,SCore
127040003
282.60
D57.1
Hemoglobin subunit beta
N/A
P68871
   Hb beta zero-thalassemiaHb F onlySecondary
86715000
282.49
D56.1
Hemoglobin subunit beta
N/A
P68871
   Hb disease other than A,C,D,E,F,H,O-Arab,SHb F, and other than A,C,D,E,F,H,O-Arab,SSecondary
80141007
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
  Hemoglobinopathy Traits
   Hb C-carrierHb F,A,CSecondary
76050008
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
   Hb D-carrierHb F,A,DSecondary
7391009
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
   Hb E-carrierHb F,A,ESecondary
46248003
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
   Hb O-Arab carrierHb F,A,O-ArabSecondary
None
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
   Hb S (sickle)-carrierHb F,A,SSecondary
16402000
282.5
D57.3
Hemoglobin subunit beta
N/A
P68871
   Hb carrier other than C,D,E,S,O-ArabHb F,A and other than C,D,E,S,O-ArabSecondary
123773003
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
 Infectious Diseases
   Congenital toxoplasmosisTOXOOther
73893000
771.2
P37.1
N/A
N/A
N/A
   Human immunodeficiency virusHIVOther
52079000
042
B20
N/A
N/A
N/A
 Biotinidase
   Biotinidase DeficiencyBIOCore
8808004
277.6
D81.810
Biotinidase
3.5.1.12
P43251
 Galactose Disorders
   Classical galactosemia (galactose-1-phosphate uridyltransferase deficiency)GALTCore
398664009
271.1
E74.21
UDP-glucose--hexose-1-phosphate uridylyltransferase
2.7.7.12
P07902
   Galactoepimerase deficiency (uridine diphosphate galactose 4-epimerase deficiency)GALESecondary
8849004
271.1
E74.21
UDP-glucose 4-epimerase
5.1.3.2
Q14376
   Galactokinase deficiencyGALKSecondary
124302001
271.1
E74.29
Galactokinase
2.7.1.6
P51570
 Lysosomal Storage Disorders
   Fabry diseaseGLAOther
16652001
272.7
E75.21
Alpha-galactosidase
3.2.1.22
P06280
   Gaucher diseaseGBAOther
190794006
272.7
E75.22
Glucosylceramidase
3.2.1.45
P04062
   Krabbe diseaseGALCOther
192782005
330.0
E75.23
Galactosylceramidase
3.2.1.46
P54803
   MucopolysaccharidosisMPS IOther
11380006
254069004
65327002
277.5
E76.01
L-iduronidase
3.2.1.76
P35475
   Niemann Pick disease A/BASMOther
58459009
272.7
E75.249
Sphingomyelin phosphodiesterase
3.1.4.12
P17405
   Pompe diseaseGAAOther
237967002
271.0
E74.02
Alpha-glucosidase
3.2.1.20
P10253
 Other Disorders
   Glucose-6-phosphate dehydrogenase deficiencyG6PDOther
62403005
282.2
D55.0
Glucose-6-phosphate dehydrogenase
1.1.1.49
P11413
   Severe combined immunodeficiencySCIDCore
31323000
279.2
D81.9
N/A
N/A
N/A

The above view reflects the criteria you selected on the previous screen.

Legend

1

Condition Name and Abbreviation — curated by the NLM and selected from among the names used by the Advisory Committee on Heritable Disorders in Newborns and Children (Committee), National Newborn Screening Information System (NNSIS), the American College of Medical Genetics (ACMG), the HHS Office of the National Coordinator for Health Information Technology (ONC)/American Health Information Community (AHIC) Personalized Health Care Work Group, and input from the newborn screening community.

2

Category — based on the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel. Conditions designated as "core" should be included in every newborn screening program, and "secondary" conditions are some of the disorders that may be detected during screening for a core disorder. Conditions classified as "other" are those that are screened for by some states but are not part of the Recommended Uniform Screening Panel.

3

SNOMED CT® CodeSystematized Nomenclature of Medicine — Clinical Terms code is assigned by the International Health Terminology Standards Development Organisation (IHTSDO). SNOMED CT is a concept-oriented clinical terminology that has been designated as a U.S. standard for electronic health information exchange. The Newborn Screening Coding and Terminology Guide uses some codes from the US Extension to SNOMED CT.

4

ICD-9-CM CodeInternational Classification of Diseases, Ninth Revision, Clinical Modification code is assigned to diagnoses associated with hospital utilization in the U.S. It is a current US standard for use in administrative healthcare transactions. Although ICD-9-CM codes are fairly specific, in certain cases, the same ICD-9-CM code might apply to several disorders in the same group (e.g. amino acid disorders).

5

ICD-10-CM CodeInternational Classification of Diseases, Tenth Revision, Clinical Modification code. Although ICD-10-CM codes are fairly specific, in certain cases, the same ICD-10-CM code might apply to multiple related disorders.

6

Affected Protein — the structure that is abnormal in this condition. The affected protein could be an enzyme, a hormone, or a specific molecule such as hemoglobin or immunoglobulin chain. If the affected protein is an enzyme, it will have an Enzyme Commission (EC) number.

7

Enzyme Commission (EC) Number — a unique identifier for the affected enzyme (if the affected protein is an enzyme); the EC number is assigned by the Recommendations of the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology on the Nomenclature and Classification of Enzymes by the Reactions they CatalyseExternal Web Site Policy.

8

UniProt Number — a unique identifier assigned to all proteins, including enzymes, hemoglobin subunits, and immunoglobulin chains. The UniProt database is maintained by the Universal Protein ResourceExternal Web Site Policy, an international collaboration.