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 disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Head finding (finding)\Finding of head region\Leukoencephalopathy\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Head finding (finding)\Intracerebral vascular finding\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \General finding of soft tissue\Blood vessel finding\Intracerebral vascular finding\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Cerebrovascular disease\Small vessel cerebrovascular disease (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Cardiovascular finding (finding)\Blood vessel finding\Intracerebral vascular finding\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Cardiovascular finding (finding)\Blood vessel finding\Disorder of blood vessel (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \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 disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cerebrovascular disease\Small vessel cerebrovascular disease (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.

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
3737580011	A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737581010	A rare genetic neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are 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. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.	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

Expanded Value Set

This concept is not in any reference sets

Back to Start