spondyloepimetaphyseal dysplasia with hypotrichosis

Preferred Label : spondyloepimetaphyseal dysplasia with hypotrichosis;

MeSH synonym : whyte syndrome; whyte petersen McAlister syndrome;

Origin ID

C535783;

UMLS CUI

C1866728;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia - hypotrichosis [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia with hypotrichosis [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Flared irregular metaphyses [HPO term]
- Short femoral neck [HPO term]
- Short stature, rhizomelic [HPO term]
MeSH term(s) associated for indexing
- hypotrichosis [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome [ORDO Disease]
Record concept(s)
- Spondyloepimetaphyseal dysplasia with hypotrichosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia - hypotrichosis [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia with hypotrichosis [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome [ORDO Disease]