1208341008: Severe oculo-renal-cerebellar syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe oculo-renal-cerebellar syndrome
• \Finding of limb structure\Disorder of extremity\Diplegia\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Chronic disease of genitourinary system\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Severe oculo-renal-cerebellar syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Diplegia\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Spastic paralysis\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Diplegia\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \General finding of soft tissue\Spasticity\Spastic paralysis\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Severe oculo-renal-cerebellar syndrome
• \Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disorder of basal ganglia\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Severe oculo-renal-cerebellar syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar syndrome
• \Finding of head region\Disorder of basal ganglia\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Severe oculo-renal-cerebellar syndrome
• \Disorder of head\Encephalopathy\Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disorder of head\Encephalopathy\Disorder of basal ganglia\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Severe oculo-renal-cerebellar syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Severe oculo-renal-cerebellar syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe oculo-renal-cerebellar syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe oculo-renal-cerebellar syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe oculo-renal-cerebellar syndrome
• \Muscle finding\Muscle tone - finding\Hypertonia\Spasticity\Spastic paralysis\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Musculoskeletal finding\Spasticity\Spastic paralysis\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe oculo-renal-cerebellar syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Severe oculo-renal-cerebellar syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\...
• \Spastic paralysis\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Paralytic syndrome\Diplegia\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Severe oculo-renal-cerebellar syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Severe oculo-renal-cerebellar syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe oculo-renal-cerebellar syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe oculo-renal-cerebellar syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe oculo-renal-cerebellar syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Chronic disease of genitourinary system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of extremity\Diplegia\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Severe oculo-renal-cerebellar 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\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Severe oculo-renal-cerebellar syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Choreoathetosis\Severe oculo-renal-cerebellar syndrome
• \Disease\Movement disorder\Paralytic syndrome\Diplegia\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Disease\Chronic disease\Chronic disease of genitourinary system\Severe oculo-renal-cerebellar syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Severe oculo-renal-cerebellar syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Severe oculo-renal-cerebellar syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Spastic diplegia\Severe oculo-renal-cerebellar syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe oculo-renal-cerebellar syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe oculo-renal-cerebellar syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Severe oculo-renal-cerebellar syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4963735012	Severe oculo-renal-cerebellar syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4963736013	Hunter Jurenka Thompson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4963737016	Oculorenocerebellar syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4963738014	Severe oculo-renal-cerebellar syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4963739018	ORC (oculo-renal-cerebellar) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4963740016	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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