acrootoocular syndrome

Preferred Label : acrootoocular syndrome;

MeSH synonym : pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies;

Origin ID

C564866;

UMLS CUI

C1849661;

Automatic exact mappings (from CISMeF team)
- Acrootoocular syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrootoocular syndrome [ORDO Disease]
- Pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies [OMIM Phenotype]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- eye diseases, hereditary [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
Record concept(s)
- acrootoocular syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrootoocular syndrome [ORDO Disease]
- Acrootoocular syndrome (disorder) [SNOMED CT concept]
- Pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies [OMIM Phenotype]