cerebroretinal microangiopathy with calcifications and cysts

Preferred Label : cerebroretinal microangiopathy with calcifications and cysts;

Définition CISMeF : Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.;

MeSH synonym : coats plus syndrome;

Details

Origin ID

C567401;

UMLS CUI

C2677299;

Currated CISMeF NLP mapping
- Cerebroretinal microangiopathy with calcfications and cysts [OMIM phenotypic series]
- Cerebroretinal microangiopathy with calcifications and cysts (disorder) [SNOMED CT concept]
- Coats plus syndrome [ORDO Disease]
- Leukoencephalopathy, brain calcifications, and cysts [OMIM Phenotype]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- brain neoplasms [MeSH Descriptor]
- calcinosis [MeSH Descriptor]
- central nervous system cysts [MeSH Descriptor]
- leukoencephalopathies [MeSH Descriptor]
- muscle spasticity [MeSH Descriptor]
- retinal diseases [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- cerebroretinal microangiopathy with calcifications and cysts [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebroretinal microangiopathy with calcifications and cysts (disorder) [SNOMED CT concept]
- Cerebroretinal microangiopathy with calcifications and cysts 1 [OMIM Phenotype]
- Coats plus syndrome [ORDO Disease]
Validated automatic mappings to BTNT
- Cerebroretinal microangiopathy with calcifications and cysts 1 [OMIM Phenotype]

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