Marinesco-Sjögren syndrome

Preferred Label : Marinesco-Sjögren syndrome;

ICD-11 definition : Marinesco-Sjögren syndrome belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.;

Details

Origin ID

1130919107;

UMLS CUI

C0024814;

Currated CISMeF NLP mapping
- Marinesco Sjogren syndrome [Disease (Nov.)]
- Marinesco-Sjogren syndrome [MeSH concept]
- Marinesco-Sjogren syndrome [DO Concept]
- Marinesco-Sjögren syndrome [PASCAL descriptor]
- Marinesco-Sjögren syndrome [ORDO Disease]
- Marinesco-Sjögren syndrome (disorder) [SNOMED CT concept]
- Marinesco-sjogren syndrome [OMIM Phenotype]
- marinesco-sjogren syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marinesco Sjogren syndrome [Disease (Nov.)]
- Marinesco-Sjogren syndrome [DO Concept]
- Marinesco-Sjogren syndrome [MeSH concept]
- Marinesco-Sjögren syndrome [ORDO Disease]
- Marinesco-Sjögren syndrome [PASCAL descriptor]
- Marinesco-Sjögren syndrome (disorder) [SNOMED CT concept]
- Marinesco-sjogren syndrome [OMIM Phenotype]
- marinesco-sjogren syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- spinocerebellar degenerations [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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