232054005: X-linked retinitis pigmentosa (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa

\Disorder of head\Disorder of eye region\Disorder of eye proper\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked retinitis pigmentosa
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa

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

Descriptions:

Id Description Lang Type Status Case? Module

347705019 X-linked retinitis pigmentosa en Synonym Active Entire term case sensitive SNOMED CT core module

620069017 X-linked retinitis pigmentosa (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked retinitis pigmentosa	Is a	Retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier
X-linked retinitis pigmentosa	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier
X-linked retinitis pigmentosa	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
X-linked retinitis pigmentosa	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	1
X-linked retinitis pigmentosa	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chromosome Xp11.3 microdeletion syndrome	Is a	True	X-linked retinitis pigmentosa	Inferred relationship	Existential restriction modifier
X-linked retinitis pigmentosa heterozygote	Is a	True	X-linked retinitis pigmentosa	Inferred relationship	Existential restriction modifier
Primary ciliary dyskinesia and retinitis pigmentosa syndrome	Is a	True	X-linked retinitis pigmentosa	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

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