Spondyloepimetaphyseal dysplasia, Irapa type

Preferred Label : Spondyloepimetaphyseal dysplasia, Irapa type;

ICD-11 definition : Spondyloepimetaphyseal dysplasia (SEMD), Irapa type is a form of SEMD characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.;

Details

Origin ID

1355637988;

UMLS CUI

C0432213;

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

Keyword's position in hierarchy(ies) :

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