macrocephaly with multiple epiphyseal dysplasia and distinctive facies

Preferred Label : macrocephaly with multiple epiphyseal dysplasia and distinctive facies;

Origin ID

C564621;

UMLS CUI

C1846722;

Currated CISMeF NLP mapping
- Al-gazali-bakalinova syndrome [OMIM Phenotype]
- Multiple epiphyseal dysplasia Al-Gazali type (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia, Al-Gazali type [ICD-11 More detail]
- Multiple epiphyseal dysplasia, Al-Gazali type [ORDO Disease]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- facies [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Al-gazali-bakalinova syndrome [OMIM Phenotype]
- Multiple epiphyseal dysplasia, Al-Gazali type [ORDO Disease]