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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) affection chronique de l'appareil digestif true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) Hereditary periodic fever (disorder) true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) maladie chronique de la fonction immunitaire false Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) maladie chronique d'une structure immunitaire false Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) Hereditary white blood cell disorder (disorder) true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) Macrophage activation syndrome (disorder) true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) Inflammation of small intestine and colon (disorder) true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome évolution clinique (attribut) récurrent true Inferred relationship Some 4
Periodic fever, infantile enterocolitis, autoinflammatory syndrome associé à (attribut) Fever true Inferred relationship Some 5
Periodic fever, infantile enterocolitis, autoinflammatory syndrome survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome localisation d'une constatation (attribut) Structure of small intestine (body structure) true Inferred relationship Some 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome morphologie associée (attribut) Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome localisation d'une constatation (attribut) Colon structure true Inferred relationship Some 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome morphologie associée (attribut) Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome localisation d'une constatation (attribut) Mononuclear phagocyte system structure (body structure) true Inferred relationship Some 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome morphologie associée (attribut) Histiocytic proliferation (morphologic abnormality) true Inferred relationship Some 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome interprète (attribut) Body temperature (observable entity) true Inferred relationship Some 6
Periodic fever, infantile enterocolitis, autoinflammatory syndrome a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 6
Periodic fever, infantile enterocolitis, autoinflammatory syndrome localisation d'une constatation (attribut) structure du système immunitaire true Inferred relationship Some 7
Periodic fever, infantile enterocolitis, autoinflammatory syndrome morphologie associée (attribut) Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 7
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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