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

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\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\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\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\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\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\...
• \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\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\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\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\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\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\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\Neurological disorder\Neuropathy\Peripheral neuropathy\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\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\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\Lipid metabolism disorder\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3424677011	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424678018	PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424679014	PHARC syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424680012	Peripheral neuropathy Fiskerstrand type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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