1295193002: type-I-interferon-geassocieerde auto-inflammatoire aandoening (aandoening)

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

\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy

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

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

\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)\Type I interferonopathy

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

5282262018 Type I interferonopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5282763010 Type 1 interferonopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5298677011 Type I interferon-associated autoinflammatory disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5298678018 Type I interferon-associated autoinflammatory disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

14603781000146116 type-I-interferon-geassocieerde auto-inflammatoire aandoening (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14603791000146119 type-1-interferonopathie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14603801000146115 type-I-interferon-geassocieerde auto-inflammatoire aandoening nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aicardi Goutieres syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
STING-associated vasculopathy with onset in infancy (disorder)	Is a	True	Type I interferonopathy	Inferred relationship	Some
Autosomal systemic lupus erythematosus (disorder)	Is a	True	Type I interferonopathy	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	Is a	True	Type I interferonopathy	Inferred relationship	Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	True	Type I interferonopathy	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Is a	True	Type I interferonopathy	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	True	Type I interferonopathy	Inferred relationship	Some
Singleton-Merten syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
Trichohepatoenteric syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
Vasculitis due to adenosine deaminase 2 deficiency	Is a	True	Type I interferonopathy	Inferred relationship	Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Is a	True	Type I interferonopathy	Inferred relationship	Some
USP18 deficiency	Is a	True	Type I interferonopathy	Inferred relationship	Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder)	Is a	True	Type I interferonopathy	Inferred relationship	Some

This concept is not in any reference sets