spondyloepimetaphyseal dysplasia with multiple dislocations

Preferred Label : spondyloepimetaphyseal dysplasia with multiple dislocations;

MeSH synonym : spondyloepimetaphyseal dysplasia with multiple dislocations, hall type; spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type;

Details

Origin ID

C535784;

UMLS CUI

C1863732;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia - multiple dislocations [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
- Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Broad, square ends of distal phalanges [HPO term]
- Small flat capital femoral epiphyses [HPO term]
- small, flattened irregular epiphyses [HPO term]
MeSH term(s) associated for indexing
- Joint Dislocations [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
Record concept(s)
- Spondyloepimetaphyseal dysplasia with multiple dislocations [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 [NCIt concept]
- Spondyloepimetaphyseal dysplasia - multiple dislocations [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
- Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) [SNOMED CT concept]

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