CDEs
Forms
Specify lysosomal storage disorder diagnosis for the patient
General Details:
Name:
Specify lysosomal storage 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
Fabry disease (GLA)
2
Gaucher disease (GBA)
3
Krabbe disease (GALC)
4
Mucopolysaccharidosis (MPS I)
5
Niemann Pick disease A/B (ASM)
6
Pompe disease (GAA)
Designations:
Designation:
Specify lysosomal storage disorder diagnosis for the patient
Tags:
Question Text
Designations:
Definition:
Patient diagnosis
Tags:
Identifiers:
Source:
NLM
Id:
XkMeFf38H1v
Version: