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
|
Abbreviation1 | Category2 | SNOMED CT Code3 | ICD-9-CM Code4 | ICD-10-CM Code5 | Affected Protein6 | EC#7 | UniProt Number8 | |||
---|---|---|---|---|---|---|---|---|---|---|---|
Conditions screened by Point of Care Testing | |||||||||||
Hearing Loss | |||||||||||
Hearing Loss | HEAR | Core |
15188001
|
389.9
|
H91.90
|
N/A |
N/A
|
N/A
|
|||
Critical Congenital Heart Disease | |||||||||||
Critical congenital heart disease | CCHD | Core |
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 | |||||||||||
Argininemia | ARG | Secondary |
23501004
|
270.6
|
E72.21
|
Arginase
|
3.5.3.1
|
P05089
P78540
|
|||
Argininosuccinic aciduria | ASA | Core |
41013004
|
270.6
|
E72.22
|
Argininosuccinate lyase
|
4.3.2.1
|
P04424
|
|||
Carbamoyl-phosphate synthase deficiency | CPS | Other |
62522004
|
270.6
|
E72.29
|
Carbamoyl-phosphate synthase (ammonia)
|
6.3.4.16
|
P31327
|
|||
Citrullinemia type I | CIT-I | Core |
398680004
|
270.6
|
E72.23
|
Argininosuccinate synthase
|
6.3.4.5
|
P00966
|
|||
Citrullinemia type II | CIT-II | Secondary |
30529005
|
270.6
|
E72.23
|
Calcium-binding mitochondrial carrier protein Aralar2
|
None
|
Q9UJS0
|
|||
Dihydrolipoamide dehydrogenase deficiency | E3 | Other |
29914000
|
270.3
|
E71.0
|
Dihydrolipoyl dehydrogenase
|
1.8.1.4
|
P09622
|
|||
Disorders of biopterin biosynthesis | BIOPT-BS | Secondary |
237914002
|
270.1
|
E70.1
|
6-pyruvoyltetrahydropterin synthase
|
4.2.3.12
|
Q03393
|
|||
Disorders of biopterin regeneration | BIOPT-REG | Secondary |
58256000
|
270.1
|
E70.1
|
6,7-dihydropteridine reductase
|
1.5.1.34
|
P09417
|
|||
Girate atrophy of the retina | Hyper ORN | Other |
314467007
|
270.6
|
H31.23
|
Ornithine aminotransferase
|
2.6.1.13
|
P04181
|
|||
Histidinemia | HIS | Other |
410058007
|
270.5
|
E70.41
|
Histidine ammonia-lyase
|
4.3.1.3
|
P42357
|
|||
Homocystinuria | HCY | Core |
11282001
|
270.4
|
E72.11
|
Cystathionine beta-synthase
|
4.2.1.22
|
P35520
|
|||
Homocystinuria-megaloblastic anemia | CBL G | Other |
237938003
|
270.4
|
E72.11
|
Methionine synthase
|
2.1.1.13
|
Q99707
|
|||
Hydroxyprolinemia | OH PRO | Other |
25739007
|
270.8
|
E72.59
|
4-oxoproline reductase
|
1.1.1.104
|
None
|
|||
Hyperlysinemia | Hyper LYS | Other |
58558003
|
270.7
|
E72.3
|
Saccharopine dehydrogenase (NADP(+), L-lysine-forming)
|
1.5.1.8
|
Q9UDR5
|
|||
Hypermethioninemia | MET | Secondary |
43123004
|
270.4
|
E72.19
|
Methionine adenosyltransferase
|
2.5.1.6
|
P31153
Q00266
|
|||
Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | HHH | Other |
30287008
|
270.6
|
E72.4
|
Mitochondrial ornithine transporter 1
|
None
|
Q9Y619
|
|||
Hyperphenylalaninemia (variant, benign) | H-PHE | Secondary |
68528007
|
270.1
|
E70.1
|
Phenylalanine 4-monooxygenase
|
1.14.16.1
|
P00439
|
|||
Hyperprolinemia type I | PRO I | Other |
61071003
|
270.8
|
E72.59
|
Proline dehydrogenase
|
1.5.99.8
|
O43272
Q9UF12
|
|||
Hyperprolinemia type II | PRO II | Other |
124177001
|
270.8
|
E72.59
|
1-pyrroline-5-carboxylate dehydrogenase
|
1.5.1.12
|
P30038
|
|||
Maple syrup urine disease | MSUD | Core |
27718001
|
270.3
|
E71.0
|
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)
|
1.2.4.4
|
P12694
P21953
|
|||
Methylcobalamin deficiency | CBL E | Other |
360373000
|
270.4
|
E72.11
|
[Methionine synthase] reductase
|
1.16.1.8
|
Q9UBK8
|
|||
Methylene tetrahydrofolate reductase deficiency | MTHFR | Other |
41797007
|
270.4
|
E72.12
|
Methylenetetrahydrofolate reductase (NAD(P)H)
|
1.5.1.20
|
P42898
|
|||
Nonketotic hyperglycinemia (glycine encephalopathy) | NKHG | Other |
237939006
|
270.7
|
E72.51
|
Glycine cleavage system H protein, mitochondrial
|
None
|
P23434
|
|||
Ornithine transcarbamylase deficiency | OTC | Other |
80908008
|
270.6
|
E72.4
|
Ornithine carbamoyltransferase
|
2.1.3.3
|
P00480
|
|||
Phenylketonuria | PKU | Core |
7573000
|
270.1
|
E70.0
|
Phenylalanine 4-monooxygenase
|
1.14.16.1
|
P00439
|
|||
Pyroglutamic acidemia | 5-OXO | Other |
39112005
|
282.2
|
D55.1
|
Glutathione synthase
|
6.3.2.3
|
P48637
|
|||
Pyruvate carboxylase deficiency | PC | Other |
87694001
|
271.8
|
E74.4
|
Pyruvate carboxylase
|
6.4.1.1
|
P11498
|
|||
Tyrosinemia type I | TYR-1 | Core |
410056006
|
270.2
|
E70.21
|
Fumarylacetoacetase
|
3.7.1.2
|
P16930
|
|||
Tyrosinemia type II | TYR-II | Secondary |
4887000
|
270.2
|
E70.21
|
Tyrosine transaminase
|
2.6.1.5
|
P17735
|
|||
Tyrosinemia type III | TYR-III | Secondary |
415764005
|
270.2
|
E70.21
|
4-hydroxyphenylpyruvate dioxygenase
|
1.13.11.27
|
P32754
|
|||
Valinemia | Hyper VAL | Other |
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 deficiency | De-Red | Secondary |
444944006
|
277.85
|
E71.318
|
2,4-dienoyl-CoA reductase (NADPH)
|
1.3.1.34
|
Q16698
Q9NUI1
|
|||
Carnitine palmitoyltransferase I deficiency | CPT-Ia | Secondary |
238001003
|
277.85
|
E71.318
|
Carnitine O-palmitoyltransferase
|
2.3.1.21
|
P23786
P50416
Q8TCG5
Q92523
|
|||
Carnitine palmitoyltransferase II deficiency | CPT-II | Secondary |
238002005
|
277.85
|
E71.318
|
Carnitine O-palmitoyltransferase
|
2.3.1.21
|
P23786
P50416
Q8TCG5
Q92523
|
|||
Carnitine uptake defect | CUD | Core |
21764004
|
277.81
|
E71.41
|
Solute carrier family 22 member 5
|
None
|
O76082
|
|||
Carnitine-acylcarnitine translocase deficiency | CACT | Secondary |
238003000
|
277.85
|
E71.318
|
Carnitine O-palmitoyltransferase
|
2.3.1.21
|
P23786
P50416
Q8TCG5
Q92523
|
|||
Glutaric acidemia type II | GA-2 | Secondary |
22886006
|
277.85
|
E71.313
|
Electron-transferring-flavoprotein dehydrogenase
|
1.5.5.1
|
Q16134
|
|||
Long-chain L-3-Hydroxy acyl-CoA dehydrogenase deficiency | LCHAD | Core |
307127004
|
277.85
|
E71.318
|
Long-chain-3-hydroxyacyl-CoA dehydrogenase
|
1.1.1.211
|
P40939
|
|||
Maternal carnitine uptake defect | CUD (mat) | Other |
206001006
|
760.9
|
P00.89
|
Solute carrier family 22 member 5
|
None
|
O76082
|
|||
Medium-chain acyl-CoA dehydrogenase deficiency | MCAD | Core |
128596003
|
277.85
|
E71.311
|
Acyl-CoA dehydrogenase
|
1.3.99.3
|
P11310
|
|||
Medium-chain ketoacyl-CoA thiolase deficiency | MCKAT | Secondary |
124265004
|
277.85
|
E71.318
|
Acetyl-CoA C-acyltransferase
|
2.3.1.16
|
P09110
P42765
P55084
|
|||
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency | SCHAD | Secondary |
237998000
|
277.85
|
E71.318
|
3-hydroxyacyl-CoA dehydrogenase
|
1.1.1.35
|
Q08426
Q16836
Q99714
|
|||
Short-chain acyl-CoA dehydrogenase deficiency | SCAD | Secondary |
124166007
|
277.85
|
E71.312
|
Butyryl-CoA dehydrogenase
|
1.3.8.1
|
P16219
|
|||
Trifunctional protein deficiency | TFP | Core |
237999008
|
277.85
|
E71.318
|
Long-chain-3-hydroxyacyl-CoA dehydrogenase
|
1.1.1.211
|
P40939
|
|||
Very long-chain acyl-CoA dehydrogenase deficiency | VLCAD | Core |
237997005
|
277.85
|
E71.310
|
Long-chain-acyl-CoA dehydrogenase
|
1.3.99.13
|
P28330
|
|||
X-linked Adrenoleukodystrophy | X-ALD | Core |
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 aciduria | 2M3HBA | Secondary |
791000124107
|
270.3
|
E71.19
|
3-hydroxy-2-methylbutyryl-CoA dehydrogenase
|
1.1.1.178
|
Q99714
|
|||
2-Methylbutyrylglycinuria | 2MBG | Secondary |
445596006
|
270.3
|
E71.19
|
3-hydroxyacyl-CoA dehydrogenase
|
1.1.1.35
|
Q99714
|
|||
3-Hydroxy-3-methylglutaric aciduria | HMG | Core |
410059004
|
270.3
|
E71.118
|
Hydroxymethylglutaryl-CoA lyase
|
4.1.3.4
|
P35914
Q8TB92
|
|||
3-Methylcrotonyl-CoA carboxylase deficiency | 3-MCC | Core |
13144005
|
270.3
|
E71.19
|
Methylcrotonoyl-CoA carboxylase
|
6.4.1.4
|
Q96RQ3
Q9HCC0
|
|||
3-Methylglutaconic aciduria | 3MGA | Secondary |
297235006
|
270.3
|
E71.111
|
Methylglutaconyl-CoA hydratase
|
4.2.1.18
|
Q13825
|
|||
Ethylmalonic encephalopathy | EMA | Other |
811000124106
|
277.87
|
E88.49
|
Electron-transferring-flavoprotein dehydrogenase
|
1.5.5.1
|
Q16134
|
|||
Formiminoglutamic acidemia | FIGLU | Other |
59761008
|
270.5
|
E70.49
|
Glutamate formimidoyltransferase
|
2.1.2.5
|
O95954
|
|||
Glutaric acidemia type I | GA-1 | Core |
76175005
|
270.7
|
E72.3
|
Glutaryl-CoA dehydrogenase
|
1.3.99.7
|
Q92947
|
|||
Isobutyrylglycinuria | IBG | Secondary |
445571008
|
270.3
|
E71.19
|
3-hydroxybutyryl-CoA dehydrogenase
|
1.1.1.157
|
None
|
|||
Isovaleric acidemia | IVA | Core |
87827003
|
270.3
|
E71.110
|
Isovaleryl-CoA dehydrogenase
|
1.3.99.10
|
P26440
|
|||
Malonic acidemia | MAL | Secondary |
124594007
|
277.85
|
E71.39
|
Malonyl-CoA decarboxylase
|
4.1.1.9
|
O95822
|
|||
Maternal 3-Methylcrotonyl-CoA carboxylase deficiency | 3-MCC (mat) | Other |
206001006
|
760.9
|
P00.89
|
Methylcrotonoyl-CoA carboxylase
|
6.4.1.4
|
Q96RQ3
Q9HCC0
|
|||
Maternal glutaric acidemia type I | GA-1 (mat) | Other |
206001006
|
760.9
|
P00.89
|
Glutaryl-CoA dehydrogenase
|
1.3.99.7
|
Q92947
|
|||
Methylmalonic acidemia | CBL A | Core |
73843004
|
270.3
|
E71.120
|
Methylmalonyl-CoA mutase
|
5.4.99.2
|
P22033
|
|||
Methylmalonic acidemia | CBL B | Core |
82245003
|
270.3
|
E71.120
|
Methylmalonyl-CoA mutase
|
5.4.99.2
|
P22033
|
|||
Methylmalonic acidemia | MUT | Core |
124680001
|
270.3
|
E71.120
|
Methylmalonyl-CoA mutase
|
5.4.99.2
|
P22033
|
|||
Methylmalonic aciduria and homocystinuria | CBL C | Secondary |
74653006
|
270.3
|
E71.120
|
Methylmalonyl-CoA mutase
|
5.4.99.2
|
P22033
|
|||
Methylmalonic aciduria and homocystinuria | CBL D | Secondary |
31220004
|
270.3
|
E71.120
|
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
|
None
|
Q9H3L0
|
|||
Multiple carboxylase deficiency | MCD | Core |
360369003
|
270.3
|
D81.818
|
Biotin--[methylcrotonoyl-CoA-carboxylase] ligase
|
6.3.4.11
|
P50747
|
|||
Primary lactic acidemia (various types) | LACTIC | Other |
190882007
|
276.2
|
E87.2
|
various enzymes |
N/A
|
N/A
|
|||
Propionic acidemia | PROP | Core |
69080001
|
270.3
|
E71.121
|
Propionyl-CoA carboxylase
|
6.4.1.3
|
P05165
P05166
|
|||
Succinyl-CoA ligase deficiency | SUCLA2 | Other |
445275003
|
277.87
|
E88.40
|
Succinate--CoA ligase (ADP-forming)
|
6.2.1.5
|
Q9P2R7
|
|||
beta-Ketothiolase deficiency | BKT | Core |
237953006
|
270.3
|
E71.19
|
Acetyl-CoA C-acyltransferase
|
2.3.1.16
|
P09110
P42765
P55084
|
|||
Non MS/MS Measured Conditions | |||||||||||
Cystic Fibrosis | |||||||||||
Cystic fibrosis | CF | Core |
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 Hypothyroidism | CH | Core |
190268003
|
243
|
E03.1
|
Thyrotropin receptor
|
N/A
|
P16473
|
|||
Secondary Congenital Hypothyroidism | CH2 | Other |
82598004
|
243
|
E03.1
|
Thyrotropin subunit beta
|
N/A
|
P01222
|
|||
Thyroid-Binding Globulin Deficiency | TBG | Other |
237544006
|
246.8
|
E07.89
|
Thyrotropin subunit beta
TSHR protein
|
N/A
|
P01222
Q0VAP8
|
|||
Hemoglobin Disorders | |||||||||||
Hemoglobinopathies | |||||||||||
Hb C beta-thalassemia | Hb F,C,A | Secondary |
61777009
|
282.49
|
D56.9
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb C-disease | Hb F,C | Secondary |
51053007
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb D beta-thalassemia | Hb F,D,A | Secondary |
47047009
|
282.49
|
D56.9
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb E beta-thalassemia | Hb F,E,A | Secondary |
234392002
|
282.49
|
D56.9
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb E-disease | Hb F,E | Secondary |
25065001
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb H-disease | Hb F,H | Secondary |
48553001
|
282.49
|
D56.0
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb S O-Arab disease | Hb F,S,O-Arab | Secondary |
127048005
|
282.68
|
D57.80
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb S Other than A,C,D,E,O-Arab | Hb F,S and other than A,C,D,E,O-Arab | Secondary |
23269001
|
282.68
|
D57.80
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb S beta-thalassemia | Hb F,S,A | Core |
127041004
|
282.41
|
D57.40
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb SC-disease | Hb F,S,C | Core |
35434009
|
282.63
|
D57.20
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb SD-disease | Hb F,S,D | Secondary |
25472008
|
282.68
|
D57.80
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb SE-disease | Hb F,S,E | Secondary |
47024008
|
282.68
|
D57.80
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb SS-disease (sickle cell anemia) | Hb F,S | Core |
127040003
|
282.60
|
D57.1
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb beta zero-thalassemia | Hb F only | Secondary |
86715000
|
282.49
|
D56.1
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb disease other than A,C,D,E,F,H,O-Arab,S | Hb F, and other than A,C,D,E,F,H,O-Arab,S | Secondary |
80141007
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hemoglobinopathy Traits | |||||||||||
Hb C-carrier | Hb F,A,C | Secondary |
76050008
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb D-carrier | Hb F,A,D | Secondary |
7391009
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb E-carrier | Hb F,A,E | Secondary |
46248003
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb O-Arab carrier | Hb F,A,O-Arab | Secondary |
None
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb S (sickle)-carrier | Hb F,A,S | Secondary |
16402000
|
282.5
|
D57.3
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Hb carrier other than C,D,E,S,O-Arab | Hb F,A and other than C,D,E,S,O-Arab | Secondary |
123773003
|
282.7
|
D58.2
|
Hemoglobin subunit beta
|
N/A
|
P68871
|
|||
Infectious Diseases | |||||||||||
Congenital toxoplasmosis | TOXO | Other |
73893000
|
771.2
|
P37.1
|
N/A |
N/A
|
N/A
|
|||
Human immunodeficiency virus | HIV | Other |
52079000
|
042
|
B20
|
N/A |
N/A
|
N/A
|
|||
Biotinidase | |||||||||||
Biotinidase Deficiency | BIO | Core |
8808004
|
277.6
|
D81.810
|
Biotinidase
|
3.5.1.12
|
P43251
|
|||
Galactose Disorders | |||||||||||
Classical galactosemia (galactose-1-phosphate uridyltransferase deficiency) | GALT | Core |
398664009
|
271.1
|
E74.21
|
UDP-glucose--hexose-1-phosphate uridylyltransferase
|
2.7.7.12
|
P07902
|
|||
Galactoepimerase deficiency (uridine diphosphate galactose 4-epimerase deficiency) | GALE | Secondary |
8849004
|
271.1
|
E74.21
|
UDP-glucose 4-epimerase
|
5.1.3.2
|
Q14376
|
|||
Galactokinase deficiency | GALK | Secondary |
124302001
|
271.1
|
E74.29
|
Galactokinase
|
2.7.1.6
|
P51570
|
|||
Lysosomal Storage Disorders | |||||||||||
Fabry disease | GLA | Other |
16652001
|
272.7
|
E75.21
|
Alpha-galactosidase
|
3.2.1.22
|
P06280
|
|||
Gaucher disease | GBA | Other |
190794006
|
272.7
|
E75.22
|
Glucosylceramidase
|
3.2.1.45
|
P04062
|
|||
Krabbe disease | GALC | Other |
192782005
|
330.0
|
E75.23
|
Galactosylceramidase
|
3.2.1.46
|
P54803
|
|||
Mucopolysaccharidosis | MPS I | Other |
11380006
254069004
65327002
|
277.5
|
E76.01
|
L-iduronidase
|
3.2.1.76
|
P35475
|
|||
Niemann Pick disease A/B | ASM | Other |
58459009
|
272.7
|
E75.249
|
Sphingomyelin phosphodiesterase
|
3.1.4.12
|
P17405
|
|||
Pompe disease | GAA | Other |
237967002
|
271.0
|
E74.02
|
Alpha-glucosidase
|
3.2.1.20
|
P10253
|
|||
Other Disorders | |||||||||||
Glucose-6-phosphate dehydrogenase deficiency | G6PD | Other |
62403005
|
282.2
|
D55.0
|
Glucose-6-phosphate dehydrogenase
|
1.1.1.49
|
P11413
|
|||
Severe combined immunodeficiency | SCID | Core |
31323000
|
279.2
|
D81.9
|
N/A |
N/A
|
N/A
|
The above view reflects the criteria you selected on the previous screen.
Legend
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.
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.
SNOMED CT® Code — Systematized 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.
ICD-9-CM Code — International 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).
ICD-10-CM Code — International 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.
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.
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 Catalyse.
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 Resource, an international collaboration.