frias syndrome

Preferred Label : frias syndrome;

MeSH synonym : growth deficiency, facial anomalies, and brachydactyly;

Origin ID

C535639;

UMLS CUI

C1864825;

Currated CISMeF NLP mapping
- Frias syndrome [OMIM Phenotype]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]
False automatic mappings
- Martínez-Frías syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- face [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
Record concept(s)
- Frias syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 14q22q23 microdeletion syndrome (disorder) [SNOMED CT concept]
- Frias syndrome [OMIM Phenotype]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]