Terminology Service for NFDI4Health
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
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http://purl.obolibrary.org/obo/MONDO_0008641
An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. [ ]
Term info
Label
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Synonyms
- RVCL
- RVCL-S
- hereditary vascular retinopathy
- retinal vasculopathy and cerebral leukoencephalopathy
- vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
Subsets
gard_rare, ordo_disease
comment
Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1
exactMatch
http://purl.obolibrary.org/obo/Orphanet_247691, https://omim.org/entry/192315, http://linkedlifedata.com/resource/umls/id/C1860518, http://identifiers.org/mesh/C566007, http://purl.obolibrary.org/obo/DOID_0111567, http://identifiers.org/snomedct/720854004
has related synonym
retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena, retinal vasculopathy with cerebral leukodystrophy, cerebroretinal vasculopathy, grand-Kaine-fulling syndrome, autosomal dominant retinal vasculopathy with cerebral leukodystrophy, HVR, grand Kaine fulling syndrome, CRV, cerebroretinal vasculopathy, hereditary, vasculopathy, retinal, with cerebral leukodystrophy, ADRVCL
id
MONDO:0008641
see also
https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome, https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy, https://github.com/monarch-initiative/mondo/issues/4521, https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy