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\...

\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)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\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\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 of adrenal cortex (disorder)\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\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 body system\Hereditary disorder by system\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\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\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 of adrenal gland\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 of adrenal gland\Disorder of adrenal cortex (disorder)\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
\Disease\Congenital disease (disorder)\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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Due to	Chromosomal disorder (disorder)	true	Inferred relationship	Some	2
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	Adrenal cortical hypofunction (disorder)	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	4
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

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
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
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