Spondyloepiphyseal dysplasia, Omani type

Preferred Label : Spondyloepiphyseal dysplasia, Omani type;

ICD-11 definition : Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplaisa (SED) characterized by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases.;

Details

Origin ID

2065919805;

UMLS CUI

C1837657;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia with congenital joint dislocations [OMIM Phenotype]
- Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Omani type [MeSH concept]
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
- spondyloepiphyseal dysplasia, omani type [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Humerospinal dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) [SNOMED CT concept]
- Humerospinal dysostosis [ORDO Disease]
- Spondyloepiphyseal dysplasia with congenital joint dislocations [OMIM Phenotype]
- Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Omani type [MeSH concept]
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
- spondyloepiphyseal dysplasia, omani type [MeSH Supplementary Concept]

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