Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Musculoskeletal Abnormalities
Limb Deformities, Congenital
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Dwarfism
Achondroplasia
Preferred term
Thanatophoric Dysplasia
Type
-
Topical Descriptor
Broader concept
Entry terms
- Dwarfisms, Thanatophoric
- Dwarfism, Thanatophoric
- Thanatophoric Dwarfism
- Thanatophoric Dwarfisms
- Thanatophoric Short Stature
Scope note
- A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
History note
- 91(85); was see under OSTEOCHONDRODYSPLASIAS 1985-90
In other languages
-
Finnish
-
letaalinen nanismi
-
nanismus letalis
-
nanismus thanatophorus
-
tanatoforinen dysplasia
-
tanatoforinen lyhytkasvuisuus
-
Swedish
-
Tanatofor dvärgväxt
-
Tanatofor kortvuxenhet
URI
http://www.yso.fi/onto/mesh/D013796
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