fryns macrocephaly

Preferred Label : fryns macrocephaly;

MeSH synonym : macrocephaly with spastic paraplegia and distinctive craniofacial appearance;

Origin ID

C563963;

UMLS CUI

C1838281;

CISMeF manual mappings
- Macrocephaly-spastic paraplegia-dysmorphism syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Fryns macrocephaly [OMIM Phenotype]
- Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- facies [MeSH Descriptor]
- paraplegia [MeSH Descriptor]
Record concept(s)
- fryns macrocephaly [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fryns macrocephaly [OMIM Phenotype]
- Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) [SNOMED CT concept]
- Macrocephaly-spastic paraplegia-dysmorphism syndrome [ORDO Disease]