loading...| Preferred Name |
Amino Acid Metabolism, Inborn Errors [Disease/Finding] |
|
| Synonyms |
Inborn Errors, Amino Acid Metabolism Amino Acidopathies, Congenital |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000369 |
|
| altLabel |
Inborn Errors, Amino Acid Metabolism Congenital Amino Acidopathies Amino Acid Metabolism, Inborn Error Amino Acid Metabolism Disorders, Inborn Amino Acid Metabolism, Inborn Errors Amino Acidopathies, Inborn Amino Acidopathies, Congenital |
|
| cui |
C0002514 |
|
| MESH DEFINITION |
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. |
|
| MESH DUI |
D000592 |
|
| MeSH name |
Amino Acid Metabolism, Inborn Errors |
|
| MESH UI |
M0000918 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000369 |
|
| NUI |
N0000000369 |
|
| prefLabel |
Amino Acid Metabolism, Inborn Errors [Disease/Finding] |
|
| SNOMED CID |
42930003 44779003 190680002 |
|
| tui |
T047 |
|
| subClassOf |