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773664005: Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)


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


0 descendants.

Expanded Value Set


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

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