724275005: déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\...
• \Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Immunodeficiency associated with chromosomal abnormality\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3481760011	Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481761010	Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481762015	Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481763013	Primary immunodeficiency due to MCM4 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
760431000241116	déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
948451000172118	déficit immunitaire primaire par déficit en MCM4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
957611000172116	déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3481764019	Syndrome with characteristics of a specific natural-killer cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene is within a 12-Mb region on chromosome 8p11.23-q11.21.	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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