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

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \Cerebellar ataxia\Early onset cerebellar ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa syndrome
• \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\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa 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\Posterior column ataxia with retinitis pigmentosa syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Posterior column ataxia with retinitis pigmentosa syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3429742015	Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3429743013	Autosomal recessive posterior column ataxia and retinitis pigmentosa	en	Synonym	Active	Case insensitive	SNOMED CT core
3429744019	Posterior column ataxia with retinitis pigmentosa syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3429745018	Syndrome that is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. Around 20 cases have been described in the last 50 years. Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalized areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present. The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localized to the AXPC1 locus (1q32-q31).	en	Definition	Active	Case sensitive	SNOMED CT core
3429746017	Syndrome that is characterised by the association of progressive sensory ataxia and retinitis pigmentosa. Around 20 cases have been described in the last 50 years. Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalised areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present. The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localised to the AXPC1 locus (1q32-q31).	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

Description inactivation indicator reference set

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