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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a Intracerebral vascular finding true Inferred relationship Existential restriction modifier (core metadata concept)
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a Leukoencephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a Small vessel cerebrovascular disease true Inferred relationship Existential restriction modifier (core metadata concept)
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Finding site Cerebral white matter structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Finding site Intracranial vascular structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a Disorder of blood vessel (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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