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722382006: Cataract and microcornea syndrome (disorder)


Status: current, Not 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
3331769010 Cataract and microcornea syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331770011 Cataract and microcornea syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331771010 The association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. The syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. There is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3919691000052111 syndrom med katarakt och mikrokornea sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cataract and microcornea syndrome (disorder) Is a Autosomal hereditary disorder true Inferred relationship Some
Cataract and microcornea syndrome (disorder) Is a Microcornea true Inferred relationship Some
Cataract and microcornea syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Cataract and microcornea syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Cataract and microcornea syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Finding site Lens clear true Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Cataract and microcornea syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Finding site Corneal structure false Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Associated morphology medfödd katarakt false Inferred relationship Some 3
Cataract and microcornea syndrome (disorder) Finding site Lens clear false Inferred relationship Some 3
Cataract and microcornea syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cataract and microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cataract and microcornea syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 1
Cataract and microcornea syndrome (disorder) Finding site Corneal structure true Inferred relationship Some 1
Cataract and microcornea syndrome (disorder) Associated morphology katarakt false Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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