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1295181006: Complex multigenic autoinflammatory syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5282221012 An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5282222017 An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorisation of the syndrome may be complicated due to the involvement of multiple genes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5282219019 Complex multigenic autoinflammatory syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5282220013 Complex multigenic autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Is a Autoinflammatory disease (disorder) true Inferred relationship Some
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Is a Genetic disease true Inferred relationship Some
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Finding site Structure of immune system (body structure) true Inferred relationship Some 1
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Adult onset Still's disease Is a True An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Inferred relationship Some
Schnitzler syndrome (disorder) Is a True An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Inferred relationship Some
PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. Is a True An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. Inferred relationship Some

This concept is not in any reference sets

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