718718009: X-gebonden kegeldisfunctiesyndroom met myopie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\X-linked cone dysfunction syndrome with myopia (disorder)
• \Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\X-linked cone dysfunction syndrome with myopia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\X-linked cone dysfunction syndrome with myopia (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked cone dysfunction syndrome with myopia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\X-linked cone dysfunction syndrome with myopia (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\X-linked cone dysfunction syndrome with myopia (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\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
6156011000146115	X-gebonden kegeldisfunctiesyndroom met myopie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6156021000146113	X-gebonden kegeldisfunctiesyndroom met bijziendheid	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6156031000146110	X-gebonden kegeldisfunctiesyndroom met myopie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6156041000146119	oogziekte van Bornholm	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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