Specify amino acid disorder diagnosis for the patient

General Details:

Name:
Specify amino acid disorder diagnosis for the patient
Steward:
NICHD
Definition:
Patient diagnosis
Registration Status:
Qualified

Permissible Values:

Data Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
1 Argininemia (ARG)
2 Argininosuccinic aciduria (ASA)
15 Carbamoyl-phosphate synthase deficeincey (CPS)
6 Citrullinemia type I (CIT-I)
7 Citrullinemia type II (CIT-II)
16 Dihydrolipoamide dehydrogenase deficiency (E3)
4 Disorders of biopterin biosynthesis (BIOPT BS)
5 Disorders of biopterin regeneration (BIOPT REG)
17 Girate atrophy of the retina (Hyper ORN)
18 Histidinemia (HIS)
9 Homocystinuria (HCY)
19 Homocystinuria-megaloblastic anemia (CBL G)
20 Hydroxyprolinemia (OH PRO)
21 Hyperlysinemia (Hyper LYS)
10 Hypermethioninemia (MET)
22 Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome (HHH)
3 Hyperphenylalaninemia (variant, benign) (H-PHE)
23 Hyperprolinemia type I (PRO I)
24 Hyperprolinemia type II (PRO II)
11 Maple syrup urine disease (MSUD)
25 Methylcobalamin deficiency (CBL E)
26 Methylene tetrahydrofolate reductase deficiency (MTHFR)
27 Nonketotic hyperglycinemia (glycine encephalopathy) (NKHG)
28 Ornithine transcarbamylase deficiency (OTC)
8 Phenylketonuria (PKU)
29 Pyroglutamic acidemia (5-OXO)
30 Pyruvate carboxylase deficiency
12 Tyrosinemia type I (TYR-1)
13 Tyrosinemia type II (TYR-II)
14 Tyrosinemia type III (TYR-III)
31 Valinemia (Hyper VAL)

Designations:

Designation:
Specify amino acid disorder diagnosis for the patient
Tags:
Question Text

Designations:

Definition:
Patient diagnosis
Tags:

Identifiers:

Source:
NLM
Id:
XyLKMhLByv
Version: