1351669009: Autosomal recessive agammaglobulinemia due to p85 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p85 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p85 deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p85 deficiency
• \Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p85 deficiency
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinemia due to p85 deficiency

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
5414369016	Autosomal recessive agammaglobulinemia due to p85 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414370015	Autosomal recessive agammaglobulinemia due to p85 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414371016	Autosomal recessive agammaglobulinaemia due to p85 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5414372011	Autosomal recessive agammaglobulinaemia due to PIK3R1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414373018	Autosomal recessive agammaglobulinemia due to PIK3R1 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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