Thanatophoric dysplasia type I

Preferred Label : Thanatophoric dysplasia type I;

ICD-11 definition : Thanatophoric dysplasia type 1 is a form of thanatophoric dysplasia characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.;

ICD-11 synonym : Thanatophoric dysplasia type 1; Thanatophoric short stature type 1; Thanatophoric dwarfism type 1;

Détails

Origin ID

1743293343;

Currated CISMeF NLP mapping
- Thanatophoric dysplasia type 1 [ORDO Disease]
- Thanatophoric dysplasia, type 1 (disorder) [SNOMED CT concept]
- Thanatophoric dysplasia, type I [OMIM Phenotype]
- Type 1 Thanatophoric Dysplasia [NCIt concept]
- thanatophoric dysplasia, type I [MeSH Supplementary Concept]
- thanatophoric dysplasia, type I [MeSH concept]

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