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232054005: X-linked retinitis pigmentosa (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked retinitis pigmentosa
\Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

347705019 X-linked retinitis pigmentosa en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

620069017 X-linked retinitis pigmentosa (disorder) en Fully specified name 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 retinitis pigmentosa	est un(e) (attribut)	X-linked hereditary disease	true	Inferred relationship	Some
X-linked retinitis pigmentosa	est un(e) (attribut)	rétinite pigmentaire (trouble)	true	Inferred relationship	Some
X-linked retinitis pigmentosa	localisation d'une constatation (attribut)	structure de la rétine	false	Inferred relationship	Some
X-linked retinitis pigmentosa	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked retinitis pigmentosa	localisation d'une constatation (attribut)	structure de la rétine	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chromosome Xp11.3 microdeletion syndrome (disorder)	est un(e) (attribut)	True	X-linked retinitis pigmentosa	Inferred relationship	Some
X-linked retinitis pigmentosa heterozygote	est un(e) (attribut)	True	X-linked retinitis pigmentosa	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	est un(e) (attribut)	True	X-linked retinitis pigmentosa	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
347705019	X-linked retinitis pigmentosa	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
620069017	X-linked retinitis pigmentosa (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core