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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
3313326019 Syndrome with characteristics of 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
3912881000052118 syndrom med X-bunden tappdysfunktion och myopi sv Synonym (core metadata concept) Active Only initial character 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
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

This concept is not in any reference sets

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