1297036006: Autosomal recessive agammaglobulinemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinemia

\Disorder of immune function (disorder)\Immunodeficiency disorder\...

\Primary immune deficiency disorder\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia

\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5289339018 Autosomal recessive agammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5289340016 Autosomal recessive agammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5289341017 Autosomal recessive agammaglobulinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive agammaglobulinemia	Is a	Isolated agammaglobulinaemia	true	Inferred relationship	Some
Autosomal recessive agammaglobulinemia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive agammaglobulinemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive agammaglobulinemia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some	1
Autosomal recessive agammaglobulinemia	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	1
Autosomal recessive agammaglobulinemia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder)	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinemia due to solute carrier family 39 member 7 deficiency (disorder)	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder)	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinaemia due to BLNK deficiency	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinemia due to p85 deficiency	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinaemia due to lambda 5 deficiency	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder)	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder)	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinaemia due to immunoglobulin alpha deficiency	Is a	True	Autosomal recessive agammaglobulinemia	Inferred relationship	Some

This concept is not in any reference sets