spondyloepiphyseal dysplasia

Preferred Label : spondyloepiphyseal dysplasia;

UMLS semantic type : T019 - Congenital Abnormality; T047 - Disease or Syndrome;

Origin ID

M0015527;

UMLS CUI

C0038015;

Automatic exact mappings (from CISMeF team)
- Spondyloepiphyseal dysplasia [PASCAL descriptor]
- Spondyloepiphyseal dysplasia congenita group (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, other [ACR pathology]
- Spondyloepiphyseal dysplasia, other [ACR pathology]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia [ICD-10 Sub-category]
- Spondyloepiphyseal dysplasia [ICD-10 Sub-category (who)]
- Spondyloepiphyseal dysplasia [MedDRA Preferred Term]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
Related record
- osteochondrodysplasias [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
Validated automatic mappings to BTNT
- Spondyloepiphyseal dysplasia congenita (disorder) [Inactive SNOMED CT concept]
- spondyloepiphyseal dysplasia tarda [Disease (Nov.)]