spondyloepiphyseal dysplasia, omani type

Preferred Label : spondyloepiphyseal dysplasia, omani type;

MeSH note : mutations in CHST3;

CISMeF synonym : kozlowski celermajer tink syndrome;

MeSH synonym : omani type of spondyloepiphyseal dysplasia; spondyloepiphyseal dysplasia, Chst3-Related; CHST3-Related skeletal dysplasia; Humero-Spinal dysostosis; SED with luxations, CHST3 type; SED, omani type; spondyloepiphyseal dysplasia with congenital joint dislocations; chondrodysplasia with multiple dislocations;

Related MeSH term : Humerospinal dysostosis; Humero-spinal dysostosis with congenital heart disease;

Details

Origin ID

C535789;

UMLS CUI

C1837657;

Automatic exact mappings (from CISMeF team)
- CHST3-related skeletal dysplasia [ORDO Disease]
- Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 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 [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
Record concept(s)
- Kozlowski Celermajer Tink syndrome [MeSH concept]
- Spondyloepiphyseal dysplasia, Omani type [MeSH concept]
See also inter- (CISMeF)
- CHST3-related skeletal dysplasia [ICD-11 More detail]
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 [ORDO Disease]
- Spondyloepiphyseal dysplasia, Omani type [ICD-11 More detail]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]

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