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

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

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Isolated congenital megalocornea (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Isolated congenital megalocornea (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Isolated congenital megalocornea (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Isolated congenital megalocornea (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\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\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Isolated congenital megalocornea (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Isolated congenital megalocornea (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Isolated congenital megalocornea (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

3481980019 Isolated congenital megalocornea (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481981015 Isolated congenital megalocornea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481982010 Congenital anterior megalophthalmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403871011 Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403872016 Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterised by bilateral enlargement of the corneal diameter (>12.5 mm) 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. 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
Isolated congenital megalocornea (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Isolated congenital megalocornea (disorder)	Is a	Megalocornea	true	Inferred relationship	Some
Isolated congenital megalocornea (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Isolated congenital megalocornea (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
Isolated congenital megalocornea (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated congenital megalocornea (disorder)	Finding site	Corneal structure	true	Inferred relationship	Some	1
Isolated congenital megalocornea (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Isolated congenital megalocornea (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Isolated congenital megalocornea (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Isolated congenital megalocornea (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

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
3481980019	Isolated congenital megalocornea (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481981015	Isolated congenital megalocornea	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481982010	Congenital anterior megalophthalmia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403871011	Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403872016	Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterised by bilateral enlargement of the corneal diameter (>12.5 mm) 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core