mousa al din al nassar syndrome

Preferred Label : mousa al din al nassar syndrome;

MeSH note : Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia;

MeSH synonym : bedouin spastic ataxia syndrome;

Détails

Origin ID

C536989;

UMLS CUI

C1849085;

Automatic exact mappings (from CISMeF team)
- Spastic ataxia - corneal dystrophy [ICD-11 More detail]
- Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Spastic ataxia-corneal dystrophy syndrome [ORDO Disease]
- Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cataract [MeSH Descriptor]
- corneal dystrophies, hereditary [MeSH Descriptor]
- myopia [MeSH Descriptor]
- spinocerebellar degenerations [MeSH Descriptor]
Record concept(s)
- Mousa Al din Al Nassar syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic ataxia-corneal dystrophy syndrome [ORDO Disease]
- Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) [SNOMED CT concept]
- Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia [OMIM Phenotype]

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