Spondylo-Megaepiphyseal-Metaphyseal dysplasia

Preferred Label : Spondylo-Megaepiphyseal-Metaphyseal dysplasia;

MeSH note : mutations in NKX3-2;

Origin ID

C567639;

UMLS CUI

C2750066;

Currated CISMeF NLP mapping
- Spondylo-megaepiphyseal-metaphyseal dysplasia [OMIM Phenotype]
- Spondylo-megaepiphyseal-metaphyseal dysplasia [ORDO Disease]
- Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondylo megaepiphyseal metaphyseal dysplasia [Disease (Nov.)]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Spondylo-Megaepiphyseal-Metaphyseal dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylo-megaepiphyseal-metaphyseal dysplasia [OMIM Phenotype]
- Spondylo-megaepiphyseal-metaphyseal dysplasia [ORDO Disease]
- Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondylo megaepiphyseal metaphyseal dysplasia [Disease (Nov.)]