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 |
3323375017 | Siegler Brewer Carey syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323376016 | Siegler Brewer Carey syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323377013 | Syndrome that is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323378015 | Syndrome that is characterised by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotaemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
1864051000172119 | syndrome de Siegler Brewer Carey | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1864061000172117 | syndrome de Siegler-Brewer-Carey | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1347731000172112 | syndroom van Siegler-Brewer-Carey | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets