Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Preferred Label : Spondyloepimetaphyseal dysplasia congenita, Strudwick type;

ICD-11 definition : Spondyloepimetaphyseal dysplasia congenita (SEMD), Strudwick type is a form of SEMD characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).;

Details

Origin ID

1090803595;

UMLS CUI

C0700635;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, strudwick type [OMIM Phenotype]
- Strudwick syndrome [MeSH concept]
- spondyloepimetaphyseal dysplasia Strudwick type [Disease (Nov.)]
- spondyloepimetaphyseal dysplasia, Strudwick type [DO Concept]
- strudwick syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, strudwick type [OMIM Phenotype]
- Spondylometaphyseal dysplasia [ORDO Disease]
- Spondylometaphyseal dysplasia [HPO term]
- Strudwick syndrome [MeSH concept]
- spondyloepimetaphyseal dysplasia Strudwick type [Disease (Nov.)]
- spondyloepimetaphyseal dysplasia, Strudwick type [DO Concept]
- strudwick syndrome [MeSH Supplementary Concept]

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