vasculopathy, retinal, with cerebral leukodystrophy

Preferred Label : vasculopathy, retinal, with cerebral leukodystrophy;

MeSH note : mutations in TREX1;

MeSH synonym : retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena; cerebroretinal vasculopathy, hereditary;

Details

Origin ID

C566007;

UMLS CUI

C1860518;

Automatic exact mappings (from CISMeF team)
- Retinal vasculopathy and cerebral leukodystrophy [ICD-11 Subcategory]
- retinal vasculopathy with cerebral leukodystrophy [DO Concept]
Currated CISMeF NLP mapping
- Cerebroretinal vasculopathy [ORDO Disease]
- Cerebroretinal vasculopathy (disorder) [Inactive SNOMED CT concept]
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [ORDO Disease]
- Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations [OMIM Phenotype]
- retinal vasculopathy with cerebral leukodystrophy [Disease (Nov.)]
DO Cross reference
- retinal vasculopathy with cerebral leukodystrophy [DO Concept]
MeSH term(s) associated for indexing
- hereditary central nervous system demyelinating diseases [MeSH Descriptor]
- retinal diseases [MeSH Descriptor]
- vascular diseases [MeSH Descriptor]
Record concept(s)
- vasculopathy, retinal, with cerebral leukodystrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebroretinal vasculopathy [ORDO Disease]
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [ORDO Disease]
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder) [SNOMED CT concept]
- Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations [OMIM Phenotype]
- retinal vasculopathy with cerebral leukodystrophy [Disease (Nov.)]
- retinal vasculopathy with cerebral leukodystrophy [DO Concept]

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