Specify fatty acid oxidation disorder diagnosis for the patient

General Details:

Name:
Specify fatty acid oxidation 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 2, 4-Dienoyl-CoA reductase deficiency (De-Red)
2 Carnitine-acylcarnitine translocase deficiency (CACT)
3 Carnitine palmitoyltransferase type I deficiency (CPT -IA)
4 Carnitine palmitoyltransferase type II deficiency (CPT-II)
5 Carnitine uptake defect/carnitine transport defect (CUD)
6 Glutaric acidemia type II (GA-2)
7 Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
8 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
9 Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
10 Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
11 Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
12 Trifunctional protein deficiency (TFP)
13 Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
14 X-linked Adrenoleukodystrophy

Designations:

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

Designations:

Definition:
Patient diagnosis
Tags:

Identifiers:

Source:
NLM
Id:
71cKMh8rkP
Version: