platyspondylic lethal skeletal dysplasia, torrance type

Preferred Label : platyspondylic lethal skeletal dysplasia, torrance type;

CISMeF synonym : platyspondylic lethal skeletal dysplasia, luton type;

MeSH synonym : thanatophoric dysplasia, torrance variant; lethal Short-Limbed platyspondylic dwarfism, torrance type; PLSD-T; platyspondylic skeletal dysplasia, torrance type;

Related MeSH term : Platyspondylic Chondrodysplasia, Torrance-Luton Type; PLSD-TL; Thanatophoric Dysplasia, Luton Variant;

Details

Origin ID

C563627;

UMLS CUI

C1835437;

Automatic exact mappings (from CISMeF team)
- Torrance type platyspondylic dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Platyspondylic dysplasia, Torrance type [ICD-11 More detail]
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
- Platyspondylic lethal skeletal dysplasia, torrance type [OMIM Phenotype]
DO Cross reference
- Torrance type platyspondylic dysplasia [DO Concept]
MeSH term(s) associated for indexing
- thanatophoric dysplasia [MeSH Descriptor]
Record concept(s)
- Platyspondylic Lethal Skeletal Dysplasia, Luton Type [MeSH concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
- Platyspondylic dysplasia, Torrance type [ICD-11 More detail]
- Platyspondylic lethal skeletal dysplasia, torrance type [OMIM Phenotype]
- Torrance type platyspondylic dysplasia [DO Concept]

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