783787000: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder)

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

\Disorder of renal parenchyma (disorder)\Glomerular disease\Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Glomerular disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Small vessel cerebrovascular disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Chronic disease of cardiovascular system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Autoimmune disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Chronic brain syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Disease of capillaries	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Renal vascular disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Retinal vascular disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Chronic disease of genitourinary system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Chronic disease of immune function (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Finding site	Structure of blood vessel of retina (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Finding site	Cerebrovascular system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Finding site	Structure of glomerular capillary basement membrane	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Type I interferonopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	Chronic disease of immune structure (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3760372011	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760373018	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760374012	RVCL - retinal vasculopathy cerebral leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760375013	RVCL-S - retinal vasculopathy, cerebral leukoencephalopathy, systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866554012	RVCL-S - retinal vasculopathy, cerebral leucoencephalopathy, systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866555013	RVCL - retinal vasculopathy cerebral leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866556014	Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760376014	An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760372011	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760373018	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760374012	RVCL - retinal vasculopathy cerebral leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760375013	RVCL-S - retinal vasculopathy, cerebral leukoencephalopathy, systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866554012	RVCL-S - retinal vasculopathy, cerebral leucoencephalopathy, systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866555013	RVCL - retinal vasculopathy cerebral leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866556014	Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760376014	An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
545941000274118	RVCL - Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421211001000118	Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
50012511000188115	vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
50012511000188115	vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
545941000274118	RVCL - Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421211001000118	Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module