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268158009: Megalocornea (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
400773013 Megalocornea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
400774019 Congenital macrocornea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
400775018 Cornea enlarged en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
400776017 Enlarged cornea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
400777014 MGCN - Megalocornea en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
400778016 Congenital megalocornea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660863016 Megalocornea (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5107661000241116 mégalocornée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
622721000274112 Kongenitale Makrokornea de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
622731000274114 Megalokornea de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Megalocornea Is a Congenital structural abnormality of cornea true Inferred relationship Some
Megalocornea Finding site Orbital region structure false Inferred relationship Some 1
Megalocornea Associated morphology anomalie congénitale false Inferred relationship Some 1
Megalocornea Finding site Structure of nervous system (body structure) false Inferred relationship Some
Megalocornea Finding site Corneal structure false Inferred relationship Some 1
Megalocornea Occurrence Congenital false Inferred relationship Some
Megalocornea Associated morphology anomalie congénitale false Inferred relationship Some 1
Megalocornea Occurrence Congenital false Inferred relationship Some
Megalocornea Finding site Corneal structure true Inferred relationship Some 1
Megalocornea Associated morphology anomalie congénitale false Inferred relationship Some 1
Megalocornea Occurrence Congenital false Inferred relationship Some 2
Megalocornea Associated morphology anomalie du développement false Inferred relationship Some 2
Megalocornea Finding site Corneal structure false Inferred relationship Some 2
Megalocornea Occurrence Congenital true Inferred relationship Some 1
Megalocornea Associated morphology Congenital enlargement false Inferred relationship Some 1
Megalocornea Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Megalocornea Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Buphthalmos with megalocornea Is a False Megalocornea Inferred relationship Some
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Is a True Megalocornea Inferred relationship Some
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. Is a True Megalocornea Inferred relationship Some
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. Is a True Megalocornea Inferred relationship Some
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Is a True Megalocornea Inferred relationship Some
Megalocornea of bilateral eyes (disorder) Is a True Megalocornea Inferred relationship Some
Congenital anterior staphyloma Is a True Megalocornea Inferred relationship Some
Congenital keratoglobus Is a False Megalocornea Inferred relationship Some

Reference Sets

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