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 |
| 5401602010 | Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401603017 | Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterised by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR