Fine-Lubinsky syndrome

Preferred Label : Fine-Lubinsky syndrome;

MeSH synonym : brachycephaly, deafness, cataract and mental retardation; brachycephaly, deafness, cataract, microstomia, and mental retardation;

Details

Origin ID

C537933;

UMLS CUI

C0795941;

CISMeF manual mappings
- Fine Lubinsky syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aymé-Gripp syndrome [ORDO Disease]
- Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cataract [MeSH Descriptor]
- craniosynostoses [MeSH Descriptor]
- deafness [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Aymé-Gripp syndrome [ORDO Disease]
Record concept(s)
- Fine-Lubinsky syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aymé-Gripp syndrome [ORDO Disease]
- Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development [OMIM Phenotype]
- Fine Lubinsky syndrome (disorder) [SNOMED CT concept]

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