1351678003: Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder)
• \Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to immunoglobulin beta 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 beta 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
5414421018	Autosomal recessive agammaglobulinemia due to CD79B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414422013	Autosomal recessive agammaglobulinaemia due to CD79B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414423015	Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414424014	Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414425010	Autosomal recessive agammaglobulinaemia due to immunoglobulin beta deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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