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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Yao syndrome Clinical course Chronic true Inferred relationship Some 2
Yao syndrome Is a Chronic inflammatory disorder true Inferred relationship Some
Yao syndrome Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Yao syndrome Is a Chronic disease of immune function (disorder) true Inferred relationship Some
Yao syndrome Is a Chronic disease of immune structure (disorder) true Inferred relationship Some
Yao syndrome Is a Autoinflammatory disease (disorder) true Inferred relationship Some
Yao syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Yao syndrome Finding site Structure of immune system (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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