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loading...| Preferred Name |
Congenital Metabolic Disorder |
| 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 Congenital Metabolic Disorder Inborn Error of Metabolism |
| label |
Congenital Metabolic Disorder |
| Legacy Concept Name |
Inborn_Errors_of_Metabolism |
| Preferred_Name |
Congenital Metabolic Disorder |
| prefixIRI |
Thesaurus:C34816 |
| prefLabel |
Congenital Metabolic Disorder |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0025521 |
| subClassOf |
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