Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3725566013 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3725567016 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3725568014 | DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3725569018 | A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. | en | Definition | Active | Case sensitive | SNOMED CT core |
3725570017 | A rare genetic endocrine disease characterized by the association of common variable immunodeficiency manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Is a | Hypopituitarism | true | Inferred relationship | Some | ||
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Is a | Disorder of anterior pituitary | true | Inferred relationship | Some | ||
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Finding site | Adenohypophysis structure | true | Inferred relationship | Some | 1 | |
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Pathological process | Abnormal immune process | true | Inferred relationship | Some | 2 | |
Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set