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718718009: X-linked cone dysfunction syndrome with myopia (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
3313325015 Bornholm eye disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313327011 X-linked cone dysfunction syndrome with myopia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313328018 X-linked cone dysfunction syndrome with myopia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401833014 X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401834015 X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. 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
X-linked cone dysfunction syndrome with myopia (disorder) Is a Myopia true Inferred relationship Some
X-linked cone dysfunction syndrome with myopia (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked cone dysfunction syndrome with myopia (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
X-linked cone dysfunction syndrome with myopia (disorder) Finding site Structure of visual system (body structure) true Inferred relationship Some 1
X-linked cone dysfunction syndrome with myopia (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)

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