Astley-Kendall dysplasia

Preferred Label : Astley-Kendall dysplasia;

ICD-11 definition : Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage.;

Details

Origin ID

1367227076;

UMLS CUI

C1300228;

Currated CISMeF NLP mapping
- Astley-Kendall dysplasia [ORDO Disease]
- Astley-Kendall dysplasia (disorder) [SNOMED CT concept]
- Astley-Kendall syndrome [MeSH Supplementary Concept]
- Astley-Kendall syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Astley-Kendall dysplasia [ORDO Disease]
- Astley-Kendall dysplasia (disorder) [SNOMED CT concept]
- Astley-Kendall syndrome [MeSH concept]
- Astley-Kendall syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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