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 |
| 3323598012 | Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323599016 | Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3323600018 | Combined immunodeficiency due to CRAC channel dysfunction | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3323601019 | Immune dysfunction with T-cell inactivation due to calcium entry defect | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3331180018 | Combined immunodeficiency due to calcium release activated calcium channel dysfunction | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323602014 | A form of combined immunodeficiency characterized by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterized by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterized by non-progressive generalized muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323603016 | A form of combined immunodeficiency characterised by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhoea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterised by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterised by non-progressive generalised muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). 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 |
| Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR