Spondyloepimetaphyseal dysplasia, aggrecan type

Preferred Label : Spondyloepimetaphyseal dysplasia, aggrecan type;

ICD-11 definition : Spondyloepimetaphyseal dysplasia, aggrecan type is a form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.;

Details

Origin ID

1133152894;

UMLS CUI

C2748544;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia aggrecan type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, aggrecan type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, aggrecan type [OMIM Phenotype]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia aggrecan type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, aggrecan type [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, aggrecan type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH concept]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH Supplementary Concept]

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