724593005: Monogenic autoinflammatory syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Monogenic autoinflammatory syndrome (disorder)

\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)

\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)
\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)

\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3441546012 Monogenic autoinflammatory syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3441547015 Monogenic autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6407011000241110 syndrome auto-inflammatoire monogénique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Monogenic autoinflammatory syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Monogenic autoinflammatory syndrome (disorder)	Is a	Hereditary disease	false	Inferred relationship	Some
Monogenic autoinflammatory syndrome (disorder)	Is a	Inflammatory disorder	false	Inferred relationship	Some
Monogenic autoinflammatory syndrome (disorder)	Is a	Autoinflammatory disease (disorder)	true	Inferred relationship	Some
Monogenic autoinflammatory syndrome (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
Monogenic autoinflammatory syndrome (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Monogenic autoinflammatory syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary periodic fever (disorder)	Is a	True	Monogenic autoinflammatory syndrome (disorder)	Inferred relationship	Some
A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	Is a	True	Monogenic autoinflammatory syndrome (disorder)	Inferred relationship	Some
Haploinsufficiency of A20	Is a	True	Monogenic autoinflammatory syndrome (disorder)	Inferred relationship	Some
Type I interferonopathy	Is a	True	Monogenic autoinflammatory syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets