778004006: Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Disorder of immune function\Autoinflammatory disease\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Disorder of immune function\Hereditary disorder of immune system\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Disorder of immune function\Autoimmune disease\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
• \Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3736376014	Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3736377017	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3736378010	APLAID - autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	en	Synonym	Active	Case sensitive	SNOMED CT core
3736379019	Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3736380016	A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q.	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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