724275005: Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland (disorder)\...
• \Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\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)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\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)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\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)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\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\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\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
5403290012	A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403291011	A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterised by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5403290012	A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403291011	A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterised by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432501001000110	Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948451000172118	déficit immunitaire primaire par déficit en MCM4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
948451000172118	déficit immunitaire primaire par déficit en MCM4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3432501001000110	Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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