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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697303015 Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697304014 NLRC4-related infantile enterocolitis, autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697305010 NLRC4-related macrophage activation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697306011 NLRC4-related autoinflammatory syndrome with macrophage activation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399772018 A rare genetic systemic or rheumatologic disease characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399773011 A rare genetic systemic or rheumatologic disease characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4697302013 Periodic fever, infantile enterocolitis, autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697303015 Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697304014 NLRC4-related infantile enterocolitis, autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697305010 NLRC4-related macrophage activation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697306011 NLRC4-related autoinflammatory syndrome with macrophage activation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399772018 A rare genetic systemic or rheumatologic disease characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399773011 A rare genetic systemic or rheumatologic disease characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3439721001000119 Periodisches Fieber-infantile Enterocolitis-autoinflammatorisches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439721001000119 Periodisches Fieber-infantile Enterocolitis-autoinflammatorisches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic digestive system disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Hereditary periodic fever (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic disease of immune function (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic disease of immune structure (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Hereditary white blood cell disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Macrophage activation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Inflammation of small intestine and colon (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Clinical course Recurrent (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated with Fever (finding) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Structure of small intestine (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Colon structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Mononuclear phagocyte system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Histiocytic proliferation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Interprets Body temperature (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 6
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Structure of immune system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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