Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 356598013 | Disorder of ornithine metabolism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 626731012 | Disorder of ornithine metabolism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3036948015 | Ornithine metabolism disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4237241000005112 | forstyrrelse af ornithinstofskiftet | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Disorder of ornithine metabolism | Is a | Disorder of the urea cycle metabolism | true | Inferred relationship | Some | ||
| Disorder of ornithine metabolism | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Disorder of ornithine metabolism | Occurrence | Congenital | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Ornithine aminotransferase deficiency | Is a | True | Disorder of ornithine metabolism | Inferred relationship | Some | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | Is a | True | Disorder of ornithine metabolism | Inferred relationship | Some | |
| A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. | Is a | True | Disorder of ornithine metabolism | Inferred relationship | Some |
This concept is not in any reference sets
FHIR