Autosomal dominant hereditary disorder	Cardiovascular system hereditary disorder	Hereditary disorder of nervous system	Intracerebral vascular finding	Leukoencephalopathy	Small vessel cerebrovascular disease	Vascular disorder
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Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder)
	COL4A1-related familial vascular leukoencephalopathy
	Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome COL4A1-related brain small vessel disease with hemorrhage
	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.
	COL4A1-gerelateerde familiaire vasculaire leukencefalopathie

Id	778060000
Status	Primitive

Finding site

Cerebral white matter structure

Finding site

Intracranial vascular structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	I67.3
Rule	TRUE
Advice	ALWAYS I67.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	M35.9
Rule	TRUE
Advice	ALWAYS M35.9
Correlation	SNOMED CT source code to target map code correlation not specified