Spondyloepimetaphyseal dysplasia, Shohat type

Preferred Label : Spondyloepimetaphyseal dysplasia, Shohat type;

ICD-11 definition : Spondyloepimetaphyseal dysplasia congenita (SEMD), Shohat type is a form of SEMD characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.;

Details

Origin ID

1389783101;

UMLS CUI

C1865185;

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

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