718718009: syndrome d'anomalie des cônes avec myopie lié à l'X (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos des yeux ou de la vue\affection du système visuel\...

\Hereditary disorder of the visual system\X-linked cone dysfunction syndrome with myopia (disorder)

\Disorder of vision\Disorder of refraction AND/OR accommodation\trouble de la réfraction\myopie\X-linked cone dysfunction syndrome with myopia (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\X-linked cone dysfunction syndrome with myopia (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked cone dysfunction syndrome with myopia (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\X-linked cone dysfunction syndrome with myopia (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\X-linked cone dysfunction syndrome with myopia (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of vision\Disorder of refraction AND/OR accommodation\trouble de la réfraction\myopie\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

752511000241118 syndrome d'anomalie des cônes avec myopie lié à l'X (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

894651000172113 maladie des yeux type Bornholm fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

902371000172111 syndrome d'anomalie des cônes avec myopie lié à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation 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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked cone dysfunction syndrome with myopia (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked cone dysfunction syndrome with myopia (disorder)	est un(e) (attribut)	myopie	true	Inferred relationship	Some
X-linked cone dysfunction syndrome with myopia (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked cone dysfunction syndrome with myopia (disorder)	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
X-linked cone dysfunction syndrome with myopia (disorder)	localisation d'une constatation (attribut)	Structure of visual system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets