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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706381018	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706382013	Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
902151000172119	syndrome autosomique récessif de leucoencéphalopathie-infarctus cérébraux-rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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