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

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\...

\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)

\Disorder of anterior pituitary\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\...

\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)

\Disorder of anterior pituitary\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Disorder of pituitary gland\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\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

950151000172112 syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1014531000172118 syndrome DAVID (deficiency in anterior pituitary function, variable immunodeficiency) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

924761000172115 deficiëntie in anterieure hypofysefunctie, variabele immuundeficiëntiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

941061000172118 DAVID (deficiëntie in anterieure hypofysefunctie, variabele immuundeficiëntie)-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

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	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	Hypopituitarism	true	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	Disorder of anterior pituitary	true	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Finding site	Adenohypophysis structure	true	Inferred relationship	Some	1
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
950151000172112	syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1014531000172118	syndrome DAVID (deficiency in anterior pituitary function, variable immunodeficiency)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
924761000172115	deficiëntie in anterieure hypofysefunctie, variabele immuundeficiëntiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
941061000172118	DAVID (deficiëntie in anterieure hypofysefunctie, variabele immuundeficiëntie)-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)