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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-0342
http://purl.bioontology.org/ontology/CSP/1849-0342
|
|---|---|
| Preferred Name | inborn aminoacid metabolism disorder |
| Definitions |
disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life.
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| Synonyms |
inborn aminoacidopathy
hyperlysinemia
cystathioninuria
homoserine deaminase deficiency
lysinemia
inborn aminoaciduria
cystathionase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life. |
|---|---|
| altLabel |
inborn aminoacidopathy
hyperlysinemia
cystathioninuria
homoserine deaminase deficiency
lysinemia
inborn aminoaciduria
cystathionase deficiency
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|
| prefLabel | inborn aminoacid metabolism disorder
|
| type | |
| tui | T047
|
| Inverse of RN |
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| notation | 1849-0342
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| Semantic type UMLS property | |
| DID | 1849-0342
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| cui |
C0596875
C0598674
C0268553
C0598675
C0268616
C0220993
C0002514
C3495552
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |