Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3009204015 | Hypohidrotic ectodermal dysplasia with immune deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3009547016 | Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3009803016 | Anhidrotic ectodermal dysplasia with immune deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5423625013 | Anhidrotic ectodermal dysplasia with immunodeficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Hypohidrotic X-linked ectodermal dysplasia | false | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Dysplasia | false | Inferred relationship | Some | 2 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated with | Chromosomal disorder (disorder) | false | Inferred relationship | Some | 4 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Immunodeficiency associated with chromosomal abnormality | false | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Ectodermal dysplasia with hair-tooth-nail-sweating defect | false | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Hereditary disorder of immune system | false | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Some | 5 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 6 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 5 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 7 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Finding site | Nail unit structure | false | Inferred relationship | Some | 2 | |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Ectodermal syndrome with hair-tooth-sweating defects (disorder) | true | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Is a | Genetic disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation | Is a | True | Anhidrotic ectodermal dysplasia with immune deficiency (disorder) | Inferred relationship | Some |
Reference Sets
Description inactivation indicator reference set