1352023006: Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor 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 B cell-activating factor receptor mutation (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Common variable immunodeficiency\Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder)
• \Disorder of body system\Disorder of immune structure\Common variable immunodeficiency\Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor 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
5420170015	Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420171016	Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420172011	Autosomal recessive combined variable immunodeficiency due to BAFF receptor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420173018	Autosomal recessive combined variable immunodeficiency due to BAFF-R deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420174012	Autosomal recessive CVID (combined variable immunodeficiency) due to TNFRSF13C mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420175013	Autosomal recessive combined variable immunodeficiency due to BAFF-R mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420170015	Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420171016	Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420172011	Autosomal recessive combined variable immunodeficiency due to BAFF receptor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420173018	Autosomal recessive combined variable immunodeficiency due to BAFF-R deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420174012	Autosomal recessive CVID (combined variable immunodeficiency) due to TNFRSF13C mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5420175013	Autosomal recessive combined variable immunodeficiency due to BAFF-R 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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