Specify organic acid disorder diagnosis for the patient

General Details:

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

Permissible Values:

Data Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
1 2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
2 2-Methylbutyrylglycinuria (2MBG)
3 3-Hydroxy-3-methyglutaric aciduria (HMG)
4 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
5 3-Methylglutaconic aciduria (3MGA)
6 Beta-Ketothiolase deficiency (bKT)
16 Ethylmalonic encephalopathy (EMA)
17 Formiminoglutamic acidemia (FIGLU)
7 Glutaric acidemia type I (GA-1)
9 Isobutyrylglycinuria (IBG)
10 Isovaleric acidemia (IVA)
11 Malonic acidemia (MAL)
12 Methylmalonic acidemia (cobalamin disorders) (CblA,B)
13 Methylmalonic acidemia (methylmalonyl-CoA mutase) (MUT)
14 Methylmalonic acidemia with homocystinuria (Cbl C,D)
8 Multiple carboxylase deficiency (MCD)
18 Primary lactic acidemia (LACTIC)
15 Propionic acidemia (PROP)
19 Succinyl-CoA ligase deficiency (SUCLA2)

Designations:

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

Designations:

Definition:
Patient diagnosis for an organic acid disorder
Tags:

Identifiers:

Source:
NLM
Id:
QJNxYznIrJP
Version: