FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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
13780391000172113 syndroom van periodieke koorts, infantiele enterocolitis en auto-inflammatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
13780401000172110 NLRC4-gerelateerd MAS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
13780411000172113 NLRC4-gerelateerd auto-inflammatoir syndroom met macrofaagactivatiesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
13780421000172115 syndroom van auto-inflammatie, intermitterende koorts en infantiele enterocolitis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
13780431000172117 NLRC4-gerelateerd macrofaagactivatiesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


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 (disorder) true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Hereditary periodic fever (disorder) true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic disease of immune function (disorder) false Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Chronic disease of immune structure (disorder) false Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Hereditary white blood cell disorder (disorder) true Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a Macrophage activation syndrome (disorder) 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 (finding) 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 (body structure) true Inferred relationship Some 2
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology Inflammatory morphology (morphologic abnormality) 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 (morphologic abnormality) true Inferred relationship Some 3
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Finding site Mononuclear phagocyte system structure (body structure) true Inferred relationship Some 1
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology 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 Interprets Body temperature (observable entity) 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 (body structure) true Inferred relationship Some 7
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Associated morphology 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

This concept is not in any reference sets

Back to Start