Hereditary Multiple Exostoses

Preferred Label : Hereditary Multiple Exostoses;

NCIt definition : Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.;

Details

Origin ID

C5183;

UMLS CUI

C0015306;

Currated CISMeF NLP mapping
- Multiple cartilaginous exostosis [PASCAL descriptor]
- Multiple congenital exostoses [ICD-10 Sub-category (who)]
- Multiple congenital exostosis (disorder) [SNOMED CT concept]
- Multiple exostoses [HPO term]
- Multiple hereditary exostosis [MedDRA Preferred Term]
- Multiple osteochondromas [ORDO Disease]
- exostoses, multiple hereditary [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH concept]
- hereditary multiple exostoses [DO Concept]
- hereditary multiple exostoses [Radlex concept]
- multiple exostoses syndrome [SNOMED Notion]
- multiple hereditary exostoses [Disease (Nov.)]
DO Cross reference
- hereditary multiple exostoses [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Exostoses, multiple, type I [OMIM Phenotype]
- Multiple congenital exostoses [ICD-10 Sub-category]
- Multiple congenital exostosis (disorder) [SNOMED CT concept]
- Multiple exostoses [HPO term]
- Multiple hereditary exostosis [MedDRA Preferred Term]
- Multiple hereditary exostosis [MedDRA LLT]
- Multiple osteochondromas [ORDO Disease]
- exostoses, multiple hereditary [MeSH concept]
- exostoses, multiple hereditary [MeSH Descriptor]
- hereditary multiple exostoses [Radlex concept]
- hereditary multiple exostoses [DO Concept]
- multiple exostoses syndrome [SNOMED Notion]
- multiple hereditary exostoses [Disease (Nov.)]
- osteochondromatosis [Radlex concept]
- osteochondromatosis syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Exostosin-1 [NCIt concept]
- Exostosin-2 [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
pathogenesis_of_disease_involves_gene
- EXT1 Gene [NCIt concept]
- EXT1 wt Allele [NCIt concept]
- EXT2 Gene [NCIt concept]
- EXT2 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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