715339004: Autosomal dominant keratitis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Disorder of head\Inflammatory disorder of head\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Autosomal dominant keratitis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal dominant keratitis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant keratitis
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal dominant keratitis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Autosomal dominant keratitis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammatory disorder of head\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Keratitis\Autosomal dominant keratitis
\Disease\Disorder of head\Inflammatory disorder of head\Inflammatory disorder of the eye\Keratitis\Autosomal dominant keratitis
\Disease\Congenital disease\Autosomal dominant keratitis

Status: current, Defined. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302274016 Autosomal dominant keratitis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3302275015 Autosomal dominant keratitis en Synonym Active Case insensitive SNOMED CT core

3302276019 Hereditary keratitis en Synonym Active Case insensitive SNOMED CT core

3302277011 Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. en Definition Active Case sensitive SNOMED CT core

3302278018 Opacification and vascularisation of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant keratitis	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	1
Autosomal dominant keratitis	Is a	Inflammatory hereditary disorder	false	Inferred relationship	Some
Autosomal dominant keratitis	Is a	Keratitis	true	Inferred relationship	Some
Autosomal dominant keratitis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant keratitis	Is a	Congenital disease	true	Inferred relationship	Some
Autosomal dominant keratitis	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Autosomal dominant keratitis	Associated morphology	Inflammation	false	Inferred relationship	Some	1
Autosomal dominant keratitis	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant keratitis	Finding site	Corneal structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302274016	Autosomal dominant keratitis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302275015	Autosomal dominant keratitis	en	Synonym	Active	Case insensitive	SNOMED CT core
3302276019	Hereditary keratitis	en	Synonym	Active	Case insensitive	SNOMED CT core
3302277011	Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia.	en	Definition	Active	Case sensitive	SNOMED CT core
3302278018	Opacification and vascularisation of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia.	en	Definition	Active	Case sensitive	SNOMED CT core