Multiple Osteochondromas

Preferred Label : Multiple Osteochondromas;

NCIt synonyms : Osteochondromatosis;

NCIt definition : An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma.;

Neoplastic status : Benign;

ICD-O code : 9210/1;

Details

Origin ID

C53457;

UMLS CUI

C0206641;

Automatic exact mappings (from CISMeF team)
- Enchondromatosis, multiple, ollier type [OMIM Phenotype]
- Multiple osteochondroma of long bone (disorder) [SNOMED CT concept]
- Ollier disease [DO Concept]
- Osteochondromatosis [ACR pathology]
- Osteochondromatosis [ACR pathology]
Currated CISMeF NLP mapping
- Exostoses, multiple, type I [OMIM Phenotype]
- Multiple congenital exostosis (disorder) [SNOMED CT concept]
- Multiple osteochondromas [ICD-11 Sub-sub category]
- Multiple osteochondromas [ORDO Disease]
- Osteochondromatosis [PASCAL descriptor]
- Osteochondromatosis (morphologic abnormality) [SNOMED CT concept]
- Osteochondromatosis NOS [ICD-9 code]
- exostoses, multiple hereditary [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH concept]
- osteochondromatosis [MeSH Descriptor]
- osteochondromatosis [MeSH concept]
- osteochondromatosis [Radlex concept]
- osteochondromatosis, nos [SNOMED Notion]
Disease excludes abnormal cell
- Malignant Cell [NCIt concept]
Disease excludes normal cell origin
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- osteochondromatosis [Disease (Nov.)]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Osteochondromatosis (morphologic abnormality) [SNOMED CT concept]
- osteochondromatosis [Disease (Nov.)]
- osteochondromatosis [MeSH concept]
- osteochondromatosis [MeSH Descriptor]
- osteochondromatosis, nos [SNOMED Notion]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_excludes_finding
- Atypia [NCIt concept]
- Increased Cellularity Present [NCIt concept]
- Locally Aggressive Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Mitotic Activity [NCIt concept]
- Necrotic Change [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cartilage Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Chondrocyte [NCIt concept]
- Neoplastic Connective and Soft Tissue Cell [NCIt concept]
disease_has_finding
- Benign Cellular Infiltrate [NCIt concept]
- Cartilaginous Differentiation [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Multifocal Lesion [NCIt concept]
disease_has_normal_cell_origin
- Cartilage Cell [NCIt concept]
- Chondrocyte [NCIt concept]
- Connective and Soft Tissue Cell [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
- Cartilage [NCIt concept]
- Musculoskeletal System [NCIt concept]
disease_mapped_to_gene
- EXT1 Gene [NCIt concept]
- EXT2 Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- del(8q24.1) [NCIt concept]
disease_may_have_molecular_abnormality
- EXT1 Gene Mutation [NCIt concept]
- EXT2 Gene Mutation [NCIt concept]

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