723452007: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

\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\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\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\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

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

3424676019 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3424677011 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3424678018 PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3424679014 PHARC syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3424680012 Peripheral neuropathy Fiskerstrand type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Is a	Polyneuropathy	true	Inferred relationship	Existential restriction modifier
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Is a	Disorder of lipid metabolism	true	Inferred relationship	Existential restriction modifier
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Finding site	Peripheral nerve structure	true	Inferred relationship	Existential restriction modifier	2
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	3
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	3
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4

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
3424676019	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3424677011	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3424678018	PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3424679014	PHARC syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3424680012	Peripheral neuropathy Fiskerstrand type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module