1351675000: Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder)
• \Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region 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
5414399013	Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414400018	Autosomal recessive agammaglobulinaemia due to IGHM mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414402014	Autosomal recessive agammaglobulinemia due to IGHM mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414419011	Autosomal recessive agammaglobulinaemia due to immunoglobulin heavy chain mu constant region deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414420017	Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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