Juvenile X-Linked Retinoschisis

Preferred Label : Juvenile X-Linked Retinoschisis;

NCIt synonyms : Juvenile X Linked Retinoschisis;

NCIt definition : A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight.;

Details

Origin ID

C75483;

UMLS CUI

C0271091;

Currated CISMeF NLP mapping
- Juvenile retinoschisis [PASCAL descriptor]
- Juvenile retinoschisis (disorder) [SNOMED CT concept]
- Retinoschisis 1, X-linked, juvenile [OMIM Phenotype]
- X-linked juvenile retinoschisis 1 [DO Concept]
- X-linked retinoschisis [ORDO Disease]
- juvenile retinoschisis [SNOMED Notion]
- juvenile retinoschisis [Disease (Nov.)]
- retinoschisis, juvenile, X-Linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile retinoschisis (disorder) [SNOMED CT concept]
- X-linked retinoschisis [ORDO Disease]
- juvenile retinoschisis [SNOMED Notion]
- retinoschisis, juvenile, X-Linked [MeSH concept]
Validated automatic mappings to NTBT
- retinoschisis [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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