exostoses, multiple hereditary

Preferred Label : exostoses, multiple hereditary;

MeSH definition : Hereditary disorder transmitted by an autosomal dominant gene 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.;

MeSH synonym : exostosis, hereditary multiple; multiple exostoses; hereditary deforming chondrodysplasia; familial exostoses; exostoses, multiple; multiple exostosis, hereditary; hereditary multiple exostoses; multiple hereditary exostoses; exostoses, multiple cartilaginous; exostosis, multiple cartilaginous; osteochondroma, multiple; chondrodysplasia, hereditary deforming; multiple cartilaginous exostosis; exostosis, familial; exostoses, familial; cartilaginous exostosis, multiple; hereditary deforming chondrodysplasias; deforming chondrodysplasia, hereditary; cartilaginous exostoses, multiple; hereditary exostoses, multiple; familial exostosis; multiple osteochondromas; diaphyseal aclases; exostosis, multiple; multiple cartilaginous exostoses; deforming chondrodysplasias, hereditary; multiple exostoses, hereditary; multiple exostosis; exostoses, hereditary multiple; diaphyseal aclasis; aclases, diaphyseal; aclasis, diaphyseal; hereditary multiple exostosis; osteochondromas, multiple; multiple osteochondroma; chondrodysplasias, hereditary deforming; exostoses, multiple, type I; multiple osteochondromatosis; Bessel-Hagen disease;

Wikipedia link : https://en.wikipedia.org/wiki/Hereditary multiple exostoses;

Details

Origin ID

D005097;

UMLS CUI

C0015306;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Exostosis (disorder) [SNOMED CT concept]
- Multiple cartilaginous exostoses [ACR pathology]
- Multiple hereditary exostosis [MedDRA LLT]
- Multiple osteochondroma of long bone (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Exostoses, multiple, type I [OMIM Phenotype]
- Hereditary Multiple Exostoses [NCIt concept]
- Multiple Osteochondromas [NCIt concept]
- Multiple cartilaginous exostosis [PASCAL descriptor]
- Multiple congenital exostoses [ICD-10 Sub-category]
- 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 [ICD-11 Sub-sub category]
- Multiple osteochondromas [ORDO Disease]
- hereditary multiple exostoses [DO Concept]
- hereditary multiple exostoses [Radlex concept]
- multiple exostoses syndrome [SNOMED Notion]
- multiple hereditary exostoses [Disease (Nov.)]
- osteochondromatosis [Radlex concept]
DO Cross reference
- hereditary multiple exostoses [DO Concept]
HPO term
- Multiple exostoses [HPO term]
Indexing information
- EXTL3 protein, human [MeSH Supplementary Concept]
- Extl3 protein, mouse [MeSH Supplementary Concept]
- exostosin-1 [MeSH Supplementary Concept]
- exostosin-2 [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic bone tumor [ORDO Disease]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
- Primary bone dysplasia with disorganized development of skeletal components [ORDO Disease]
- Rare bone tumor [ORDO Disease]
- Rare genetic tumor [ORDO Disease]
Record concept(s)
- exostoses, multiple hereditary [MeSH concept]
Related MeSH Supplementary Concept(s)
- Potocki-Shaffer syndrome [MeSH Supplementary Concept]
- Stuve-Wiedemann syndrome [MeSH Supplementary Concept]
- chondrodysplasia, blomstrand type [MeSH Supplementary Concept]
- dermochondrocorneal dystrophy of françois [MeSH Supplementary Concept]
- dysplasia epiphysealis hemimelica with chondromas and osteochondromas [MeSH Supplementary Concept]
- exostoses of heel [MeSH Supplementary Concept]
- exostoses, multiple, type III [MeSH Supplementary Concept]
- kniest like dysplasia lethal [MeSH Supplementary Concept]
- metachondromatosis [MeSH Supplementary Concept]
- metaphyseal acroscyphodysplasia [MeSH Supplementary Concept]
- multiple exostoses with spastic tetraparesis [MeSH Supplementary Concept]
- polyposis, intestinal, with multiple exostoses [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- osteochondroma [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Exostoses, multiple, type I [OMIM Phenotype]
- Hereditary Multiple Exostoses [NCIt concept]
- 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]
- hereditary multiple exostoses [DO Concept]
- hereditary multiple exostoses [Radlex concept]
- multiple exostoses syndrome [SNOMED Notion]
- multiple hereditary exostoses [Disease (Nov.)]
- osteochondromatosis [Radlex concept]
- osteochondromatosis syndrome [SNOMED Notion]

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