Spondyloepiphyseal dysplasia, Byers type

Preferred Label : Spondyloepiphyseal dysplasia, Byers type;

ICD-11 definition : Spondyloepiphyseal dysplasia, Byers type is a type of spondyloepiphyseal dysplasia described in several members of a single family and characterized by short-trunked short stature, punctate corneal dystrophy and disorganization of dermal collagen fibrils on transmission electron microscopy examination. Since the original report of this family in the 1970s, no new cases have been reported.;

Details

Origin ID

1922586680;

UMLS CUI

C1866727;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia with punctate corneal dystrophy [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH concept]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia with punctate corneal dystrophy [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH concept]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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