Multiple enchondromatosis, maffucci type

Preferred Label : Multiple enchondromatosis, maffucci type;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Maffucci syndrome;

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. 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).;

Prefixed ID : %614569;

Details

Origin ID

614569;

UMLS CUI

C0024454;

Automatic exact mappings (from CISMeF team)
- Maffucci syndrome [ICD-11 More detail]
- Maffucci syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Enchondromatosis [ICD-10 Sub-category]
- Enchondromatosis [ICD-10 Sub-category (who)]
- Maffucci Syndrome [NCIt concept]
- Maffucci syndrome [PASCAL descriptor]
- Maffucci syndrome [DO Concept]
- Maffucci syndrome [Radlex concept]
- Maffucci syndrome [ORDO Disease]
- Maffucci syndrome (disorder) [SNOMED CT concept]
- enchondromatosis [MeSH Descriptor]
- maffucci syndrome [MeSH concept]
- maffucci syndrome [SNOMED Notion]
DO Cross reference
- Maffucci syndrome [DO Concept]
HPO term(s)
- Chondrosarcoma [HPO term]
- Hemangioma [HPO term]
- Multiple enchondromatosis [HPO term]
- Pathologic fracture [HPO term]
ORDO concept(s)
- Maffucci syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maffucci Syndrome [NCIt concept]
- Maffucci syndrome [ORDO Disease]
- Maffucci syndrome [DO Concept]
- Maffucci syndrome [MedDRA Preferred Term]
- Maffucci syndrome (disorder) [SNOMED CT concept]
- Ollier disease [DO Concept]
- maffucci syndrome [SNOMED Notion]
- maffucci syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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