Cat-Eye Syndrome

Preferred Label : Cat-Eye Syndrome;

NCIt synonyms : Cat Eye Syndrome;

NCIt definition : A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malformations.;

Details

Origin ID

C75477;

UMLS CUI

C0265493;

Currated CISMeF NLP mapping
- Cat eye syndrome [MedDRA LLT]
- Cat eye syndrome [OMIM Phenotype]
- Cat eye syndrome (disorder) [SNOMED CT concept]
- Cat-eye syndrome [ICD-11 More detail]
- Cat-eye syndrome [ORDO Disease]
- Schmid-Fraccaro syndrome [MeSH Supplementary Concept]
- Schmid-Fraccaro syndrome [MeSH concept]
- cat eye syndrome [Disease (Nov.)]
- cat eye syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cat eye syndrome [OMIM Phenotype]
- Cat eye syndrome [MedDRA LLT]
- Cat eye syndrome (disorder) [SNOMED CT concept]
- Cat-eye syndrome [ORDO Disease]
- Cat-eye syndrome [ICD-11 More detail]
- Schmid Fraccaro syndrome [MedDRA Preferred Term]
- Schmid-Fraccaro syndrome [MeSH concept]
- Schmid-Fraccaro syndrome [MeSH Supplementary Concept]
- cat eye syndrome [Disease (Nov.)]
- cat eye syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 22 [NCIt concept]

Keyword's position in hierarchy(ies) :

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