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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder)	Is a	Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)	true	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder)	Is a	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets