1351569004: Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase 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 uracil DNA glycosylase 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 uracil DNA glycosylase deficiency (disorder)
• \Hyperimmunoglobulin M syndrome\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder)
• \Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase 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
5407820013	Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407821012	Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407822017	Autosomal recessive hyperimmunoglobulin M syndrome due to UNG deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407823010	Hyper-IgM syndrome due to UNG	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407824016	Hyper-IgM syndrome due to uracil N-glycosylase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407830016	Hyper-IgM syndrome type 5	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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