1351667006: Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder)
• \Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder)
• \Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to E47 transcription factor 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
5414359010	Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414360017	Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414361018	Autosomal recessive agammaglobulinemia due to TCF3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414362013	Autosomal recessive agammaglobulinaemia due to E47 transcription factor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414363015	Autosomal recessive agammaglobulinaemia due to TCF3 mutation	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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