768667002: Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Disorder of body system\Disorder of immune structure (disorder)\Chronic disease of immune structure (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Inflammatory disorder\Chronic inflammatory disorder\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Chronic disease\Chronic disease of immune structure (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Chronic disease\Chronic disease of immune function (disorder)\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.
• \Chronic disease\Chronic inflammatory disorder\A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.

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
3686431013	A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686417013	Yao syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686418015	Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686419011	NOD2-associated autoinflammatory disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686420017	Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686421018	NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7647651000241110	syndrome de Yao	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7647661000241113	maladie auto-inflammatoire associée à NOD2 (nucleotide binding oligomerization domain containing 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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