1354483004: Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Common variable immunodeficiency\Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation
• \Disorder of body system\Disorder of immune structure\Common variable immunodeficiency\Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5422238015	Autosomal recessive CVID (combined variable immunodeficiency) due to PIK3CG deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422239011	Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422240013	Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5422241012	Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5422242017	Autosomal recessive combined variable immunodeficiency due to PIK3CG deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422238015	Autosomal recessive CVID (combined variable immunodeficiency) due to PIK3CG deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422239011	Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422240013	Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5422241012	Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5422242017	Autosomal recessive combined variable immunodeficiency due to PIK3CG deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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