X-Linked Spondyloepimetaphyseal Dysplasia

Preferred Label : X-Linked Spondyloepimetaphyseal Dysplasia;

NCIt synonyms : SEMDX;

NCIt definition : An X-linked condition caused by mutations(s) in the BGN gene on chromosome Xq28, encoding biglycan. It is characterized by severe short-trunk dwarfism and brachydactyly, but with normal facies and normal intelligence.;

Details

Origin ID

C188996;

UMLS CUI

C1848097;

Automatic exact mappings (from CISMeF team)
- Spondyloepimetaphyseal dysplasia, X-linked [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, X-linked [ICD-11 More detail]
- X-linked spondyloepimetaphyseal dysplasia [DO Concept]
- X-linked spondyloepimetaphyseal dysplasia [ORDO Disease]
- X-linked spondyloepimetaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia, X-linked [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, X-linked [ICD-11 More detail]
- X-linked spondyloepimetaphyseal dysplasia [DO Concept]
- X-linked spondyloepimetaphyseal dysplasia [ORDO Disease]
- X-linked spondyloepimetaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia, X-linked [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, X-linked [ICD-11 More detail]
- X-linked spondyloepimetaphyseal dysplasia [DO Concept]
- X-linked spondyloepimetaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- BGN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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