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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\...

\Hypoadrenalism\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency

\Disorder of adrenal cortex\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
\Disease\Congenital disease\Congenital immunodeficiency disease\Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3481761010 Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency en Synonym Active Case insensitive SNOMED CT core

3481762015 Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3481763013 Primary immunodeficiency due to MCM4 deficiency en Synonym Active Initial character case insensitive 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 Case sensitive 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	Pathological process	Abnormal immune process	true	Inferred relationship	Some	3
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Due to	Chromosomal disorder	true	Inferred relationship	Some	2
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Is a	Adrenal insufficiency	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Occurrence	Congenital	true	Inferred relationship	Some	4
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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	Case insensitive	SNOMED CT core
3481761010	Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3481762015	Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3481763013	Primary immunodeficiency due to MCM4 deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core