Cat-eye syndrome

Preferred Label : Cat-eye syndrome;

ICD-11 definition : Cat-eye syndrome is a chromosomal anomaly syndrome characterized by two major features: anal atresia and coloboma of the iris, from which the name of the syndrome derives. However, patients present with a very heterogeneous range of manifestations, including : preauricular skin tags or/and pits, cardiac defects, cleft palate and urinary tract or skeletal anomalies and moderate intellectual deficit.;

ICD-11 synonym : Ocular coloboma - imperforate anus; chromosome 22 inversion or duplication;

Details

Origin ID

1813923633;

UMLS CUI

C0265493;

Currated CISMeF NLP mapping
- Cat eye syndrome [OMIM Phenotype]
- Cat eye syndrome [MedDRA LLT]
- Cat eye syndrome (disorder) [SNOMED CT concept]
- Cat-Eye Syndrome [NCIt concept]
- 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 [NCIt concept]
- Cat-eye syndrome [ORDO Disease]
- 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]

Keyword's position in hierarchy(ies) :

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