loading...| Preferred Name | Amino Acid Metabolism, Inborn Errors [Disease/Finding] | |
| Synonyms |
|
|
| ID |
http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000369 |
|
| code |
C916 |
|
| Display_Name |
Amino Acid Metabolism, Inborn Errors |
|
| imported from | ||
| label |
Amino Acid Metabolism, Inborn Errors [Disease/Finding] |
|
| MeSH_CUI |
M0000918 |
|
| 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 |
|
| NUI |
N0000000369 |
|
| prefixIRI |
NDF-RT:N0000000369 |
|
| prefLabel |
Amino Acid Metabolism, Inborn Errors [Disease/Finding] |
|
| RxNorm_CUI |
1022859 |
|
| SNOMED_CID |
190680002 42930003 44779003 |
|
| Synonym |
Congenital Amino Acidopathies Amino Acidopathies, Congenital Amino Acid Metabolism Disorders, Inborn Inborn Errors, Amino Acid Metabolism Amino Acidopathies, Inborn Amino Acid Metabolism, Inborn Error |
|
| UMLS_CUI |
C0002514 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000369 | CIDO | SAME_URI | |
| http://purl.bioontology.org/ontology/NDFRT/N0000000369 | NDFRT | LOOM | |
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000369 | CIDO | LOOM |