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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
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
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
3655378010 The non-syndromic form of a primary immunodeficiency disease characterised by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhoea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinaemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655379019 The non-syndromic form of a primary immunodeficiency disease characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
3437501001000112 Agammaglobulinämie, isolierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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 Is a Congenital agammaglobulinemia true Inferred relationship Existential restriction modifier (core metadata concept)
Isolated agammaglobulinemia Is a Hereditary disorder of immune system false Inferred relationship Existential restriction modifier (core metadata concept)
Isolated agammaglobulinemia Is a Disorder of immune structure false Inferred relationship Existential restriction modifier (core metadata concept)
Isolated agammaglobulinemia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated agammaglobulinemia Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated agammaglobulinemia Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated agammaglobulinemia Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Isolated agammaglobulinemia Pathological process (attribute) Abnormal immune process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated agammaglobulinemia Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked agammaglobulinaemia Is a True Isolated agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia Is a True Isolated agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Is a True Isolated agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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