thanatophoric dysplasia, type I

Preferred Label : thanatophoric dysplasia, type I;

MeSH note : aka TD1; mutations in FGFR3;

MeSH synonym : lethal Short-Limbed platyspondylic dwarfism, san diego type; platyspondylic lethal skeletal dysplasia, san diego type;

Details

Origin ID

C566844;

UMLS CUI

C1868678;

Currated CISMeF NLP mapping
- Thanatophoric dysplasia type 1 [ORDO Disease]
- Thanatophoric dysplasia type I [ICD-11 More detail]
- Thanatophoric dysplasia, type 1 (disorder) [SNOMED CT concept]
- Thanatophoric dysplasia, type I [OMIM Phenotype]
MeSH term(s) associated for indexing
- receptor, fibroblast growth factor, type 3 [MeSH Descriptor]
- thanatophoric dysplasia [MeSH Descriptor]
Record concept(s)
- thanatophoric dysplasia, type I [MeSH concept]
See also inter- (CISMeF)
- Type 1 Thanatophoric Dysplasia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric dysplasia, type 1 (disorder) [SNOMED CT concept]
- Thanatophoric dysplasia, type I [OMIM Phenotype]
- Type 1 Thanatophoric Dysplasia [NCIt concept]

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