764858009: Isolated agammaglobulinemia (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Isolated agammaglobulinaemia
• \Disorder of immune function\Hereditary disorder of immune system\Isolated agammaglobulinaemia
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital agammaglobulinaemia\Isolated agammaglobulinaemia
• \Disorder of body system\Disorder of immune structure\Isolated agammaglobulinaemia
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Isolated agammaglobulinaemia
• \Congenital disease\Congenital immunodeficiency disease\Congenital agammaglobulinaemia\Isolated agammaglobulinaemia

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655363015	Isolated agammaglobulinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3655364014	Isolated agammaglobulinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3655365010	Isolated agammaglobulinemia (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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