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 |
| 356786018 | 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4570895016 | Congenital bile acid synthesis defect type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 626857017 | 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4570898019 | The most common anomaly of bile acid synthesis with characteristics of variable manifestations of progressive cholestatic liver disease and fat malabsorption. The clinical presentation is heterogeneous, however most patients present with features of neonatal cholestasis. The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission 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 |
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | localisation d'une constatation (attribut) | structure d'un système corporel | false | Inferred relationship | Some | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | survenue (attribut) | congénital | false | Inferred relationship | Some | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | est un(e) (attribut) | Disorder of cholesterol catabolism | true | Inferred relationship | Some | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | est un(e) (attribut) | défaut de synthèse des acides biliaires | true | Inferred relationship | Some | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | localisation d'une constatation (attribut) | foie | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR