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1197594000: Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder)


Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4697302013 Periodic fever, infantile enterocolitis, autoinflammatory syndrome en Synonym Active Case insensitive SNOMED CT core
4697303015 Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4697304014 NLRC4-related infantile enterocolitis, autoinflammatory syndrome en Synonym Active Case sensitive SNOMED CT core
4697305010 NLRC4-related macrophage activation syndrome en Synonym Active Case sensitive SNOMED CT core
4697306011 NLRC4-related autoinflammatory syndrome with macrophage activation syndrome en Synonym Active Case sensitive SNOMED CT core
4697307019 A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic digestive system disorder false Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Hereditary periodic fever true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic disease of immune function false Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic disease of immune structure false Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Hereditary white blood cell disorder true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Macrophage activation syndrome true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Enterocolitis true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Clinical course Recurrent true Inferred relationship Some 4
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated with Fever true Inferred relationship Some 5
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Occurrence Infancy true Inferred relationship Some 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Structure of small intestine true Inferred relationship Some 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Inflammatory morphology true Inferred relationship Some 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Occurrence Infancy true Inferred relationship Some 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Colon structure true Inferred relationship Some 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Inflammatory morphology true Inferred relationship Some 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Mononuclear phagocyte system structure true Inferred relationship Some 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Histiocytic proliferation true Inferred relationship Some 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Pathological process Abnormal immune process true Inferred relationship Some 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Interprets Body temperature true Inferred relationship Some 6
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Has interpretation Above reference range true Inferred relationship Some 6
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Structure of immune system true Inferred relationship Some 7
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Inflammatory morphology true Inferred relationship Some 7
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Pathological process Abnormal immune process true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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