Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5097781017 | Severe primary trimethylaminuria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5097782012 | Severe primary trimethylaminuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5097783019 | A rare inborn error of metabolism characterised by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odour in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5097784013 | A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe primary trimethylaminuria (disorder) | Is a | Trimethylaminuria | true | Inferred relationship | Some | ||
| Severe primary trimethylaminuria (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe primary trimethylaminuria (disorder) | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Severe primary trimethylaminuria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR