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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \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
• \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 (disorder)\Hearing loss\Hearing loss associated with syndrome\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\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)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\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)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\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 (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 (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\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)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\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 (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\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 (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

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 (core metadata concept)	SNOMED CT core
3424677011	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424678018	PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424679014	PHARC syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424680012	Peripheral neuropathy Fiskerstrand type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403074016	This rare neurologic disease is a slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424676019	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424677011	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424678018	PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424679014	PHARC syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424680012	Peripheral neuropathy Fiskerstrand type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424681011	A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403074016	This rare neurologic disease is a slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
602551000274116	Periphere Neuropathie, Typ Fiskerstrand	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602561000274118	Polyneuropathie, Hörverlust, Ataxie, Retinitis pigmentosa und Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446231001000118	Polyneuropathie - Hörverlust - Ataxie - Retinitis pigmentosa - Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6476001000241115	syndrome de polyneuropathie, surdité, ataxie, rétinite pigmentaire et cataracte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6476011000241118	neuropathie périphérique de type Fiskerstrand	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6476021000241113	syndrome PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6476001000241115	syndrome de polyneuropathie, surdité, ataxie, rétinite pigmentaire et cataracte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6476011000241118	neuropathie périphérique de type Fiskerstrand	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6476021000241113	syndrome PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602551000274116	Periphere Neuropathie, Typ Fiskerstrand	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602561000274118	Polyneuropathie, Hörverlust, Ataxie, Retinitis pigmentosa und Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446231001000118	Polyneuropathie - Hörverlust - Ataxie - Retinitis pigmentosa - Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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