1351577000: Autosomal recessive hyperimmunoglobulin M syndrome due to INO80 complex ATPase subunit 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 INO80 complex ATPase subunit deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to INO80 complex ATPase subunit 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
5407863011	Autosomal recessive hyperimmunoglobulin M syndrome due to INO80 complex ATPase subunit deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407864017	Autosomal recessive hyperimmunoglobulin M syndrome due to INO80 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407865016	Hyper IgM syndrome due to INO80	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407866015	Autosomal recessive hyperimmunoglobulin M syndrome due to INO80 complex ATPase subunit deficiency	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

Back to Start