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 foetus and/or newborn\Congenital disease (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)

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

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

Reference Sets

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

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
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