Cat eye syndrome

Preferred Label : Cat eye syndrome;

Symbol : CES;

CISMeF acronym : CES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Inv dup(22)(q11); Chromosome 22 partial tetrasomy; Schmid-fraccaro syndrome;

Description : Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).;

Inheritance : Autosomal dominant;

Molecular basis : Supernumerary inv dup(22)(q11) chromosome, occasionally due to interstitial duplication of 22q11;

Prefixed ID : #115470;

Details

Origin ID

115470;

UMLS CUI

C0265493;

Automatic exact mappings (from CISMeF team)
- Combat Exposure Scale Questionnaire [NCIt concept]
- Czech Language [NCIt concept]
Currated CISMeF NLP mapping
- Cat eye syndrome [MedDRA LLT]
- Cat eye syndrome (disorder) [SNOMED CT concept]
- Cat-Eye Syndrome [NCIt concept]
- Cat-eye syndrome [ICD-11 More detail]
- Cat-eye syndrome [ORDO Disease]
- Schmid-Fraccaro syndrome [MeSH concept]
- Schmid-Fraccaro syndrome [MeSH Supplementary Concept]
- cat eye syndrome [Disease (Nov.)]
- cat eye syndrome [SNOMED Notion]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Absent radius [HPO term]
- Anal atresia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biliary atresia [HPO term]
- Chorioretinal coloboma [HPO term]
- Cleft palate [HPO term]
- Downslanted palpebral fissures [HPO term]
- Growth abnormality [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Intestinal malrotation [HPO term]
- Iris coloboma [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Renal agenesis [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Total anomalous pulmonary venous return [HPO term]
ORDO concept(s)
- Cat-eye syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cat eye syndrome [MedDRA LLT]
- Cat eye syndrome (disorder) [SNOMED CT concept]
- Cat-Eye Syndrome [NCIt concept]
- Cat-eye syndrome [ORDO Disease]
- Cat-eye syndrome [ICD-11 More detail]
- Schmid Fraccaro syndrome [MedDRA Preferred Term]
- Schmid-Fraccaro syndrome [MeSH Supplementary Concept]
- Schmid-Fraccaro syndrome [MeSH concept]
- cat eye syndrome [SNOMED Notion]
- cat eye syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients