Craniotubular Hyperostosis

Preferred Label : Craniotubular Hyperostosis;

Alternative definition : NICHD: A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations.;

NCI Metathesaurus CUI : CL514621;

Details

Origin ID

C131430;

UMLS CUI

C4329692;

Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
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- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
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- Connective and Soft Tissue [NCIt concept]
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- Bone [NCIt concept]

Keyword's position in hierarchy(ies) :

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