Link to this page
National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000000893
http://purl.bioontology.org/ontology/NDFRT/N0000000893
|
|---|---|
| Preferred Name | Cystinuria [Disease/Finding] |
| Synonyms |
Cystinuria
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | Cystinuria
|
|---|---|
| prefLabel | Cystinuria [Disease/Finding]
|
| MESH DEFINITION | An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
|
| MESH DUI | D003555
|
| MESH UI | M0005557
|
| MeSH name | Cystinuria
|
| type | |
| tui | T047
|
| SNOMED CID | 85020001
|
| May be treated by | |
| notation | N0000000893
|
| Semantic type UMLS property | |
| NUI | N0000000893
|
| cui | C0010691
|
| NDFRT kind | DISEASE_KIND
|
| Has contraindicated drug | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |