773664005: syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\...
• \Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disorder of anterior pituitary (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\...
• \Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disorder of anterior pituitary (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\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
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 Common French translation module (core metadata concept)
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
771821000241117	syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
950151000172112	syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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