778060000: Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Head finding (finding)\Finding of head region\Leukoencephalopathy\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Head finding (finding)\Intracerebral vascular finding\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \General finding of soft tissue\Blood vessel finding\Intracerebral vascular finding\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cerebrovascular disease\Small vessel cerebrovascular disease (disorder)\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Cardiovascular finding\Blood vessel finding\Intracerebral vascular finding\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cerebrovascular disease\Small vessel cerebrovascular disease (disorder)\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
• \Disease\Disorder of soft tissue\Vascular disorder\A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

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
5405593011	A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405594017	A rare genetic neurological disorder characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent haemorrhagic and/or ischaemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leucoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737574015	Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737575019	COL4A1-related familial vascular leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737576018	Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737577010	COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737578017	COL4A1-related brain small vessel disease with hemorrhage	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737579013	COL4A1-related brain small vessel disease with haemorrhage	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866559019	COL4A1-related familial vascular leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866560012	Collagen type IV alpha 1 chain related familial vascular leucoencephalopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3866561011	COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leucoencephalopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5673661000241117	leuco-encéphalopathie vasculaire familiale liée à la chaîne du collagène de type IV alpha 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5673671000241113	syndrome autosomique dominant de tortuosité des artérioles rétiniennes-hémiparésie infantile-leucoencéphalopathie associé à COL4A1 (collagen type IV alpha 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5673681000241110	leuco-encéphalopathie vasculaire familiale associée à COL4A1 (collagen type IV alpha 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382221001000118	Leukenzephalopathie, familiäre vaskuläre, COL4A1-assoziierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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