1351670005: Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder)
• \Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p110 delta 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 p110 delta 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
5414374012	Autosomal recessive agammaglobulinemia due to PIK3CD mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414375013	Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414376014	Autosomal recessive agammaglobulinemia due to p110 delta deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414377017	Autosomal recessive agammaglobulinaemia due to PIK3CD mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414378010	Autosomal recessive agammaglobulinaemia due to p110 delta 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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