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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3725567016 Deficiency in anterior pituitary function, variable immunodeficiency syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725568014 DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3725566013 Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725567016 Deficiency in anterior pituitary function, variable immunodeficiency syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725568014 DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3417471001000110 Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950151000172112 syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014531000172118 syndrome DAVID (deficiency in anterior pituitary function, variable immunodeficiency) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950151000172112 syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014531000172118 syndrome DAVID (deficiency in anterior pituitary function, variable immunodeficiency) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417471001000110 Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a Hypopituitarism true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a Disorder of anterior pituitary true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Finding site Adenohypophysis structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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