Status: current. Date: 30-Jan 2002
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 |
| 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 |
| 4570895016 | Congenital bile acid synthesis defect type 1 | en | Synonym (core metadata concept) | Active | Entire term 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449018018 | Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449019014 | Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. | 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 | Is a | Disorder of cholesterol catabolism | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | Finding site | Body system structure | false | SNOMED RT Concept | SNOMED RT Concept | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | Occurrence | Congenital | false | SNOMED RT Concept | SNOMED RT Concept | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | Is a | Synthetic defect of bile acids (disorder) | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | Finding site | Liver structure | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | Occurrence | Congenital | true | SNOMED RT Concept | SNOMED RT Concept | 2 | |
| 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | Is a | Autosomal recessive hereditary disorder | true | SNOMED RT Concept | SNOMED RT Concept |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR