Endosteal Hyperostosis

Preferred Label : Endosteal Hyperostosis;

NCIt related terms : van Buchem Disease; van Buchem Disease Type 1;

Alternative definition : NICHD: An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis.;

Details

Origin ID

C131812;

UMLS CUI

C0432272;

Automatic exact mappings (from CISMeF team)
- SOST-related sclerosing bone dysplasia [DO Concept]
- Worth disease (disorder) [SNOMED CT concept]
- osteochondrodysplasias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hyperostosis corticalis generalisata [ORDO Disease]
- Hyperphosphatasemia tarda (disorder) [SNOMED CT concept]
- Van buchem disease [OMIM Phenotype]
- hyperostosis corticalis generalisata [MeSH concept]
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]
UMLS correspondences (same concept)
- Hyperostosis corticalis generalisata [ORDO Disease]
- Hyperostosis corticalis generalisata [ICD-11 More detail]
- Hyperphosphatasemia tarda (disorder) [SNOMED CT concept]
- Van buchem disease [OMIM Phenotype]
- hyperostosis corticalis generalisata [MeSH concept]
- hyperostosis corticalis generalisata [Disease (Nov.)]
- hyperphosphatasemia tarda [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- SOST Gene [NCIt concept]
related_to_genetic_biomarker
- SOST Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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