Status: current. Date: 31-Jan 2002
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 356789013 | Delta-4-3-oxosteroid-5-beta-reductase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 626859019 | Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4570918019 | Congenital bile acid synthesis defect type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4570919010 | An anomaly of bile acid synthesis with characteristics of severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Patients present with neonatal cholestasis and rapid progression to cirrhosis and death in infancy without intervention. Caused by a mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1, 7q32-q33). Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449020015 | Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449021016 | Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterised by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Delta-4-3-oxosteroid-5-beta-reductase deficiency | Is a | Synthetic defect of bile acids | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Delta-4-3-oxosteroid-5-beta-reductase deficiency | Is a | Disorder of cholesterol catabolism | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Delta-4-3-oxosteroid-5-beta-reductase deficiency | Is a | Autosomal recessive hereditary disorder | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Delta-4-3-oxosteroid-5-beta-reductase deficiency | Occurrence | Congenital | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Delta-4-3-oxosteroid-5-beta-reductase deficiency | Finding site | Liver structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR