spondylometaphyseal dysplasia, axial

Preferred Label : spondylometaphyseal dysplasia, axial;

MeSH synonym : axial SMD; SMD, axial;

Origin ID

C535795;

UMLS CUI

C1865695;

Currated CISMeF NLP mapping
- Axial spondylometaphyseal dysplasia [ICD-11 More detail]
- Axial spondylometaphyseal dysplasia [ORDO Disease]
- Axial spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, axial [OMIM Phenotype]
- axial spondylometaphyseal dysplasia [DO Concept]
Has phenotype(s) (HPO)
- Mild platyspondyly [HPO term]
- Short femoral neck [HPO term]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Axial spondylometaphyseal dysplasia [ORDO Disease]
Record concept(s)
- Spondylometaphyseal dysplasia, axial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axial spondylometaphyseal dysplasia [ORDO Disease]
- Axial spondylometaphyseal dysplasia [ICD-11 More detail]
- Axial spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, axial [OMIM Phenotype]
- axial spondylometaphyseal dysplasia [DO Concept]