Enchondromatosis, multiple, ollier type

Preferred Label : Enchondromatosis, multiple, ollier type;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : DYSCHONDROPLASIA; Ollier disease; OSTEOCHONDROMATOSIS;

Description : Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). - Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia, also known as spondyloenchondrodysplasia (271550), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).;

Inheritance : ? Autosomal dominant form;

Prefixed ID : %166000;

Détails

Origin ID

166000;

UMLS CUI

C0014084;

Automatic exact mappings (from CISMeF team)
- Dyschondroplasia [NCIt concept]
- Dyschondroplasia [MedDRA LLT]
- Multiple Osteochondromas [NCIt concept]
- Multiple congenital exostosis (disorder) [SNOMED CT concept]
- Osteochondromatosis [PASCAL descriptor]
- Osteochondromatosis (morphologic abnormality) [SNOMED CT concept]
- dyschondroplasias [MeSH concept]
- osteochondrodysplasias [MeSH Descriptor]
- osteochondromatosis [MeSH Descriptor]
- osteochondromatosis [MeSH concept]
- osteochondromatosis [Radlex concept]
- osteochondromatosis, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Enchondromatosis [PASCAL descriptor]
- Enchondromatosis [ICD-10 Sub-category]
- Enchondromatosis [ICD-11 More detail]
- Enchondromatosis [NCIt concept]
- Enchondromatosis [MedDRA Preferred Term]
- Enchondromatosis [ICD-10 Sub-category (who)]
- Enchondromatosis (disorder) [SNOMED CT concept]
- Enchondroses [HRDO Sign]
- Ollier disease [DO Concept]
- Ollier disease [MedDRA LLT]
- Ollier disease [ORDO Disease]
- enchondromatosis [MeSH Descriptor]
- enchondromatosis [MeSH concept]
- osteochondromatosis syndrome [SNOMED Notion]
DO Cross reference
- Ollier disease [DO Concept]
HPO term(s)
- Abnormality of long bone morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chondrosarcoma [HPO term]
- Hemangioma [HPO term]
- Multiple enchondromatosis [HPO term]
ORDO concept(s)
- Ollier disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Enchondromatosis [ICD-10 Sub-category (who)]
- Enchondromatosis [ICD-10 Sub-category]
- Enchondromatosis [MedDRA Preferred Term]
- Enchondromatosis [NCIt concept]
- Enchondromatosis [PASCAL descriptor]
- Enchondromatosis [ICD-11 More detail]
- Enchondromatosis (disorder) [SNOMED CT concept]
- Enchondroses [HRDO Sign]
- Multiple enchondromatosis [HPO term]
- Ollier disease [ORDO Disease]
- Ollier disease [MedDRA LLT]
- enchondromatosis [MeSH Descriptor]
- enchondromatosis [MeSH concept]
- enchondromatosis [Radlex concept]
- enchondromatosis [Disease (Nov.)]
Validated automatic mappings to NTBT
- enchondromatosis [Disease (Nov.)]

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