spondyloepimetaphyseal dysplasia, genevieve type

Preferred Label : spondyloepimetaphyseal dysplasia, genevieve type;

MeSH synonym : SEMD, genevieve type;

Origin ID

C535785;

UMLS CUI

C1864872;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia Genevieve type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Genevieve type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Geneviève type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, genevieve type [OMIM Phenotype]
Has phenotype(s) (HPO)
- Electron microscopic abnormality of the skin [HPO term]
- Flared irregular metaphyses [HPO term]
- Full lips [HPO term]
- Poorly formed pinnae [HPO term]
- Short femoral neck [HPO term]
- Small, irregular epiphyses [HPO term]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- hirsutism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Spondyloepimetaphyseal dysplasia, Geneviève type [ORDO Disease]
Record concept(s)
- Spondyloepimetaphyseal dysplasia, Genevieve type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia Genevieve type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Genevieve type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Geneviève type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, genevieve type [OMIM Phenotype]