1336030008: Keratitis fugax hereditaria (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Head finding (finding)\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Keratitis fugax hereditaria

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Keratitis fugax hereditaria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Keratitis fugax hereditaria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Keratitis fugax hereditaria
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Keratitis fugax hereditaria
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Keratitis fugax hereditaria
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Keratitis fugax hereditaria
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Keratitis fugax hereditaria
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Keratitis fugax hereditaria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Keratitis fugax hereditaria
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Keratitis fugax hereditaria
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammatory disorder of head\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Keratitis fugax hereditaria
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Keratitis fugax hereditaria
\Disease\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye (disorder)\Keratitis\Keratitis fugax hereditaria
\Disease\Recurrent disease\Keratitis fugax hereditaria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5362908015 Keratitis fugax hereditaria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5362909011 Keratitis fugax hereditaria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5362910018 Keratoendotheliitis fugax hereditaria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5362911019 KFH - keratitis fugax hereditaria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5362914010 A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5362915011 A rare ophthalmic disorder characterised by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperaemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keratitis fugax hereditaria	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Keratitis fugax hereditaria	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Keratitis fugax hereditaria	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Keratitis fugax hereditaria	Is a	Autoinflammatory disease (disorder)	true	Inferred relationship	Some
Keratitis fugax hereditaria	Is a	Recurrent disease	true	Inferred relationship	Some
Keratitis fugax hereditaria	Is a	Keratitis	true	Inferred relationship	Some
Keratitis fugax hereditaria	Clinical course	Recurrent	true	Inferred relationship	Some	3
Keratitis fugax hereditaria	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Keratitis fugax hereditaria	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Keratitis fugax hereditaria	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Keratitis fugax hereditaria	Finding site	Corneal structure	true	Inferred relationship	Some	2
Keratitis fugax hereditaria	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Keratitis fugax hereditaria	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5362908015	Keratitis fugax hereditaria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5362909011	Keratitis fugax hereditaria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5362910018	Keratoendotheliitis fugax hereditaria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5362911019	KFH - keratitis fugax hereditaria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5362914010	A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5362915011	A rare ophthalmic disorder characterised by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperaemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core