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1279837000: Congenital cataract microcornea with corneal opacity (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5234051014 Congenital cataract microcornea with corneal opacity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234052019 CCMCO - congenital cataract microcornea with corneal opacity en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234053012 Congenital cataract microcornea with corneal opacity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400710013 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400711012 A rare genetic eye disease characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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