epilepsy telangiectasia

Preferred Label : epilepsy telangiectasia;

MeSH note : Mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency;

MeSH synonym : Epilepsy-Telangiectasia;

Détails

Origin ID

C535497;

UMLS CUI

C1856929;

Currated CISMeF NLP mapping
- Epilepsy telangiectasia syndrome (disorder) [SNOMED CT concept]
- Epilepsy-telangiectasia [OMIM Phenotype]
- Epilepsy-telangiectasia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- dysgammaglobulinemia [MeSH Descriptor]
- epilepsy [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- telangiectasis [MeSH Descriptor]
ORDO relation(s)
- Epilepsy-telangiectasia syndrome [ORDO Disease]
Record concept(s)
- Epilepsy telangiectasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy-telangiectasia [OMIM Phenotype]
- Epilepsy-telangiectasia syndrome [ORDO Disease]

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