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26098002: Microcornea (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
43735011 Microcornea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756490014 Microcornea (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1224971011 Cornea small en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4474281000241117 microcornée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
640281000274116 Kleine Kornea de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
640291000274119 Mikrokornea de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcornea Is a Congenital structural abnormality of cornea true Inferred relationship Some
Microcornea Occurrence Congenital false Inferred relationship Some
Microcornea Finding site Structure of nervous system (body structure) false Inferred relationship Some
Microcornea Finding site Corneal structure true Inferred relationship Some 1
Microcornea Associated morphology Congenital smallness false Inferred relationship Some 1
Microcornea Occurrence Congenital false Inferred relationship Some
Microcornea Finding site Corneal structure false Inferred relationship Some 1
Microcornea Associated morphology Congenital smallness false Inferred relationship Some 1
Microcornea Occurrence Congenital false Inferred relationship Some 2
Microcornea Associated morphology anomalie du développement false Inferred relationship Some 2
Microcornea Finding site Corneal structure false Inferred relationship Some 2
Microcornea Associated morphology Congenital smallness false Inferred relationship Some 3
Microcornea Finding site Corneal structure false Inferred relationship Some 3
Microcornea Occurrence Congenital false Inferred relationship Some 3
Microcornea Occurrence Congenital true Inferred relationship Some 1
Microcornea Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcornea Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. Is a True Microcornea Inferred relationship Some
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Is a True Microcornea Inferred relationship Some
Microcornea with corectopia and macular hypoplasia syndrome (disorder) Is a True Microcornea Inferred relationship Some
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. Is a True Microcornea Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a True Microcornea Inferred relationship Some
A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. Is a True Microcornea Inferred relationship Some
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupillae and retinal detachment. Is a True Microcornea Inferred relationship Some
Microcornea of bilateral eyes (disorder) Is a True Microcornea Inferred relationship Some
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. Is a True Microcornea Inferred relationship Some
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Is a True Microcornea Inferred relationship Some

This concept is not in any reference sets

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