Platyspondylic dysplasia, Torrance type

Preferred Label : Platyspondylic dysplasia, Torrance type;

ICD-11 definition : Platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing.;

Details

Origin ID

263213426;

UMLS CUI

C1835437;

Automatic exact mappings (from CISMeF team)
- Torrance type platyspondylic dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
- Platyspondylic lethal skeletal dysplasia, torrance type [OMIM Phenotype]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
- Platyspondylic lethal skeletal dysplasia, torrance type [OMIM Phenotype]
- Torrance type platyspondylic dysplasia [DO Concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH Supplementary Concept]

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