Enchondromatosis

Preferred Label : Enchondromatosis;

NCIt synonyms : Ollier's Disease; Dyschondroplasia;

NCIt related terms : Ollier Disease;

NCIt definition : A rare benign disorder characterized by lack of normal endochondral ossification, and the growth of multiple enchondromas. It primarily affects the bones of the hand, in children and young adults. Extent of the disease varies; in some cases, neoplastic involvement may be widespread causing considerable deformity.;

Neoplastic status : Benign;

Details

Origin ID

C3008;

UMLS CUI

C0014084;

Automatic exact mappings (from CISMeF team)
- Dyschondroplasia [MedDRA LLT]
- Dyschondroplasia [ICD-11 More detail]
- dyschondroplasias [MeSH concept]
- osteochondrodysplasias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Enchondromatosis [PASCAL descriptor]
- Enchondromatosis [ICD-10 Sub-category]
- Enchondromatosis [ICD-11 More detail]
- Enchondromatosis [ICD-10 Sub-category (who)]
- Enchondromatosis [MedDRA Preferred Term]
- Enchondromatosis (disorder) [SNOMED CT concept]
- Enchondromatosis, multiple, ollier type [OMIM Phenotype]
- Enchondroses [HRDO Sign]
- Ollier disease [DO Concept]
- Ollier disease [MedDRA LLT]
- Ollier disease [ORDO Disease]
- enchondromatosis [Disease (Nov.)]
- enchondromatosis [MeSH Descriptor]
- enchondromatosis [MeSH concept]
- enchondromatosis [Radlex concept]
- osteochondromatosis syndrome [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]
Disease may have findings
- Calcification [NCIt concept]
- Multinodular Pattern [NCIt concept]
- Pain [NCIt concept]
- Pathologic Fracture [NCIt concept]
- Swelling [NCIt 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)
- Enchondromatosis [ICD-10 Sub-category]
- Enchondromatosis [PASCAL descriptor]
- Enchondromatosis [ICD-11 More detail]
- Enchondromatosis [ICD-10 Sub-category (who)]
- Enchondromatosis [MedDRA Preferred Term]
- Enchondromatosis (disorder) [SNOMED CT concept]
- Enchondromatosis, multiple, ollier type [OMIM Phenotype]
- Enchondroses [HRDO Sign]
- Multiple enchondromatosis [HPO term]
- Ollier disease [ORDO Disease]
- Ollier disease [MedDRA LLT]
- enchondromatosis [Radlex concept]
- enchondromatosis [Disease (Nov.)]
- enchondromatosis [MeSH concept]
- enchondromatosis [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_excludes_cytogenetic_abnormality
- del(8q24.1) [NCIt concept]
disease_excludes_finding
- Locally Aggressive Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_excludes_normal_tissue_origin
- Periosteum [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]
- Hyaline Cartilage 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]
- Medullary Bone [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
- Cartilage [NCIt concept]
- Musculoskeletal System [NCIt concept]
may_be_associated_disease_of_disease
- Juvenile Bilateral Ovarian Granulosa Cell Tumor [NCIt concept]
- Juvenile Ovarian Granulosa Cell Tumor [NCIt concept]

Keyword's position in hierarchy(ies) :

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