loading...| Preferred Name | Congenital Metabolic Disorder | |
| Synonyms |
Inborn Errors of Metabolism Congenital Metabolism Disorder Inborn Error of Metabolism Congenital Metabolic Disorder |
|
| Definitions |
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816 |
|
| code |
C34816 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89506 |
|
| Contributing_Source |
NICHD |
|
| DEFINITION |
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. |
|
| FULL_SYN |
Inborn Errors of Metabolism Congenital Metabolism Disorder Inborn Error of Metabolism Congenital Metabolic Disorder |
|
| label |
Congenital Metabolic Disorder |
|
| Legacy Concept Name |
Inborn_Errors_of_Metabolism |
|
| Preferred_Name |
Congenital Metabolic Disorder |
|
| prefixIRI |
Thesaurus:C34816 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0025521 |
|
| subClassOf |