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 |
| 22267013 | Cystathioninuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 474888013 | CTH - Cystathioninuria | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 734247015 | Cystathioninuria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5144622010 | Cystathionine gamma-lyase deficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5144623017 | A rare inborn error of metabolism with characteristics of abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cystathioninuria | Is a | Disorder of sulphur-bearing amino acid metabolism | true | Inferred relationship | Some | ||
| Cystathioninuria | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Cystathioninuria | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Cystathioninuria | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cystathioninuria | Due to | Cystathionine gamma-lyase deficiency | true | Inferred relationship | Some | 1 | |
| Cystathioninuria | Is a | Inborn error of amino acid metabolism | true | Inferred relationship | Some | ||
| Cystathioninuria | Occurrence | Congenital | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR