Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3313334013 | Congenital analbuminemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313335014 | Congenital analbuminemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313336010 | Congenital analbuminaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313337018 | The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients present with only a few mild clinical signs and biochemical abnormalities, HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The disorder appears to be more severe in the fetus or during early infancy. Transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases, the disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3929231000052116 | kongenital analbuminemi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital analbuminemia (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Congenital analbuminemia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital analbuminemia (disorder) | Is a | Hypoalbuminemia | true | Inferred relationship | Some | ||
| Congenital analbuminemia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR