Schmid-Fraccaro syndrome

Preferred Label : Schmid-Fraccaro syndrome;

MeSH note : Coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, heart and renal malformations, near-normal or normal mental development;

MeSH synonym : INV DUP(22)(Q11); cat eye syndrome; chromosome 22 partial tetrasomy;

Details

Origin ID

C535918;

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 [NCIt concept]
- Cat-eye syndrome [ICD-11 More detail]
- Cat-eye syndrome [ORDO Disease]
- cat eye syndrome [Disease (Nov.)]
- cat eye syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- aneuploidy [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 22 [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
ORDO relation(s)
- Cat-eye syndrome [ORDO Disease]
Record concept(s)
- Schmid-Fraccaro syndrome [MeSH concept]
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]
- Cat-eye syndrome [ICD-11 More detail]
- Schmid Fraccaro syndrome [MedDRA Preferred Term]
- cat eye syndrome [SNOMED Notion]
- cat eye syndrome [Disease (Nov.)]

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