1354472008: Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 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 Rho guanine nucleotide exchange factor 1 mutation (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Common variable immunodeficiency\Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder)
• \Disorder of body system\Disorder of immune structure\Common variable immunodeficiency\Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder)

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
5422200019	Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422201015	Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422203017	Autosomal recessive combined variable immunodeficiency due to ARHGEF1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422204011	Autosomal recessive CVID (combined variable immunodeficiency) due to ARHGEF1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422205012	Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422200019	Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422201015	Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422203017	Autosomal recessive combined variable immunodeficiency due to ARHGEF1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422204011	Autosomal recessive CVID (combined variable immunodeficiency) due to ARHGEF1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422205012	Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation	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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