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764858009: Isolated agammaglobulinemia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5404396014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404397017 Isolated agammaglobulinaemia (IA) is the non-syndromic form of agammaglobulinaemia, a primary immunodeficiency disease, and is characterised by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655363015 Isolated agammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655364014 Isolated agammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655365010 Isolated agammaglobulinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
943211000172114 agammaglobulinémie isolée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
991881000172111 hypogammaglobulinémie isolée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437501001000112 Agammaglobulinämie, isolierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


12 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Congenital agammaglobulinemia true Inferred relationship Some
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. Is a Hereditary disorder of immune system false Inferred relationship Some
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. Is a Disorder of immune structure (disorder) false Inferred relationship Some
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. Occurrence Congenital true Inferred relationship Some 1
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. Finding site Structure of immune system (body structure) false Inferred relationship Some 1
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. Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
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. Is a Primary immune deficiency disorder true Inferred relationship Some
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. Pathological process (attribute) Abnormal immune process (qualifier value) false Inferred relationship Some 1
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. Is a Hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked agammaglobulinemia Is a True 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. Inferred relationship Some
Autosomal recessive agammaglobulinemia Is a True 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. Inferred relationship Some
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Is a True 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. Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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