Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5423622011 | Anhidrotic ectodermal dysplasia with immune deficiency due to NFKBIA gain of function mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5423623018 | Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5423624012 | Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, gain of function mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5423626014 | Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA GOF (gain of function) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5423627017 | Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, gain of function mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Is a | Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | true | Inferred relationship | Some | ||
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Some | 5 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Has interpretation | Abnormal | true | Inferred relationship | Some | 5 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Finding site | Tooth structure | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR