1351572006: Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\...
• \Combined immunodeficiency disease\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)
• \Hyperimmunoglobulin M syndrome\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)
• \Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5407834013	Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407835014	Autosomal recessive hyperimmunoglobulin M syndrome due to AID deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407836010	Autosomal recessive hyper-IgM syndrome type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407837018	Autosomal recessive activation-induced cytidine deaminase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5407838011	Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407839015	Autosomal recessive hyper IgM syndrome due to AICDA	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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