771476007: Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Vascular insufficiency\Ischaemia\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Vascular insufficiency\Ischaemia\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Finding of head region\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disorder of head\Encephalopathy\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Cardiovascular finding\Perfusion finding\Ischaemia\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Cardiovascular finding\Cardiovascular disease\Cerebrovascular disease\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Cardiovascular finding\Cardiovascular disease\Vascular disorder\Vascular insufficiency\Ischaemia\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Vascular insufficiency\Ischaemia\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cerebrovascular disease\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Vascular insufficiency\Ischaemia\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, 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\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Disorder of soft tissue\Vascular disorder\Vascular insufficiency\Ischaemia\Cerebral ischaemia\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706380017	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706381018	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706382013	Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706383015	A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	en	Definition	Active	Case sensitive	SNOMED CT core
3706384014	A rare neurologic disease characterised by global developmental delay, intellectual disability, multiple ischaemic lesions on brain MRI, behavioural abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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