724065003: Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa

\Cerebellar ataxia\Early onset cerebellar ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa

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

\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa

\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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and 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\Autosomal recessive retinitis pigmentosa\Autosomal recessive posterior column ataxia and retinitis pigmentosa
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Autosomal recessive posterior column ataxia and retinitis pigmentosa

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3429742015 Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3429743013 Autosomal recessive posterior column ataxia and retinitis pigmentosa en Synonym Active Entire term case insensitive SNOMED CT core module

3429744019 Posterior column ataxia with retinitis pigmentosa syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive posterior column ataxia and retinitis pigmentosa	Is a	Early onset cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Autosomal recessive posterior column ataxia and retinitis pigmentosa	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier
Autosomal recessive posterior column ataxia and retinitis pigmentosa	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Autosomal recessive posterior column ataxia and retinitis pigmentosa	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive posterior column ataxia and retinitis pigmentosa	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive posterior column ataxia and retinitis pigmentosa	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive posterior column ataxia and retinitis pigmentosa	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3429742015	Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3429743013	Autosomal recessive posterior column ataxia and retinitis pigmentosa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3429744019	Posterior column ataxia with retinitis pigmentosa syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module