734026006: Isolated congenital megalocornea (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\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Isolated congenital megalocornea
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Isolated congenital megalocornea
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Isolated congenital megalocornea
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Isolated congenital megalocornea
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Isolated congenital megalocornea
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Isolated congenital megalocornea
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Developmental disorder\Developmental hereditary disorder\Isolated congenital megalocornea
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Isolated congenital megalocornea

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3481980019 Isolated congenital megalocornea (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3481981015 Isolated congenital megalocornea en Synonym Active Case insensitive SNOMED CT core

3481982010 Congenital anterior megalophthalmia en Synonym Active Case insensitive SNOMED CT core

3481983017 Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated congenital megalocornea	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Isolated congenital megalocornea	Associated morphology	Enlargement	true	Inferred relationship	Some	1
Isolated congenital megalocornea	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Isolated congenital megalocornea	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Isolated congenital megalocornea	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Isolated congenital megalocornea	Is a	Megalocornea	true	Inferred relationship	Some
Isolated congenital megalocornea	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Isolated congenital megalocornea	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
Isolated congenital megalocornea	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated congenital megalocornea	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
3481980019	Isolated congenital megalocornea (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3481981015	Isolated congenital megalocornea	en	Synonym	Active	Case insensitive	SNOMED CT core
3481982010	Congenital anterior megalophthalmia	en	Synonym	Active	Case insensitive	SNOMED CT core
3481983017	Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23.	en	Definition	Active	Case sensitive	SNOMED CT core