Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5066401015 | Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5066402010 | Hereditary angioedema with C1 esterase inhibitor deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5066403017 | Hereditary angioedema with C1 esterase inhibitor deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5066404011 | HAE (hereditary angioedema) with C1Inh (C1 esterase inhibitor) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5066405012 | Hereditary angioneurotic oedema with C1 inhibitor deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5066406013 | Hereditary angioneurotic edema with C1 inhibitor deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400100012 | A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400101011 | A rare hereditary angioedema characterised by potentially life-threatening episodes of subcutaneous and/or submucosal oedema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting oedema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | Is a | Hereditary angioedema | true | Inferred relationship | Some | ||
| Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | Associated morphology | Angioedema | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | Is a | True | Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | Inferred relationship | Some | |
| Hereditary C1 esterase inhibitor deficiency - deficient factor | Is a | True | Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR