Spondyloepiphyseal dysplasia tarda, X-linked

Preferred Label : Spondyloepiphyseal dysplasia tarda, X-linked;

ICD-11 definition : Spondyloepiphyseal dysplasia tarda is a form of spondyloepiphyseal dysplasia (SED) characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.;

Details

Origin ID

219612045;

UMLS CUI

C3541456;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia tarda [ACR pathology]
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda [ACR pathology]
- Spondyloepiphyseal dysplasia tarda [HPO term]
- Spondyloepiphyseal dysplasia tarda (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda, X-linked [OMIM Phenotype]
- X-linked spondyloepiphyseal dysplasia tarda [MedDRA LLT]
- X-linked spondyloepiphyseal dysplasia tarda [DO Concept]
- spondyloepiphyseal dysplasia tarda [Disease (Nov.)]
- spondyloepiphyseal dysplasia tarda [SNOMED Notion]
- spondyloepiphyseal dysplasia tarda, X-Linked [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia tarda (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda, X-linked [OMIM Phenotype]
- X-linked spondyloepiphyseal dysplasia tarda [DO Concept]
- X-linked spondyloepiphyseal dysplasia tarda [MedDRA LLT]
- spondyloepiphyseal dysplasia tarda [SNOMED Notion]
- spondyloepiphyseal dysplasia tarda, X-Linked [MeSH concept]
Validated automatic mappings to NTBT
- Spondyloepiphyseal dysplasia [MedDRA Preferred Term]
- osteochondrodysplasias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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