Maffucci Syndrome

Preferred Label : Maffucci Syndrome;

NCIt synonyms : Maffucci's Anomalad; Chondrodysplasia with Hemangioma; Chondroplasia Angiomatosis; Dyschondroplasia and Cavernous Hemangioma; Enchondromatosis with Hemangiomata; Hemangiomata with Dyschondroplasia;

NCIt definition : A rare non-inherited disorder primarily affecting the skin and skeletal system. It is classified as a mesodermal dysplasia. Clinical signs appear within the first decade and are characterized by multiple soft tissue hemiangiomas and enchondromas leading to skeletal deformities. Clinical course is progressive with variable development of associated malignancies.;

Details

Origin ID

C3213;

UMLS CUI

C0024454;

Automatic exact mappings (from CISMeF team)
- Maffucci syndrome [ICD-11 More detail]
- Maffucci syndrome [MedDRA Preferred Term]
- Robin's anomalad [MedDRA LLT]
Currated CISMeF NLP mapping
- Enchondromatosis [ICD-10 Sub-category (who)]
- Enchondromatosis [ICD-10 Sub-category]
- Maffucci syndrome [PASCAL descriptor]
- Maffucci syndrome [DO Concept]
- Maffucci syndrome [Radlex concept]
- Maffucci syndrome [ORDO Disease]
- Maffucci syndrome (disorder) [SNOMED CT concept]
- Multiple enchondromatosis, maffucci type [OMIM Phenotype]
- enchondromatosis [MeSH Descriptor]
- maffucci syndrome [MeSH concept]
- maffucci syndrome [SNOMED Notion]
DO Cross reference
- Ollier disease [DO Concept]
See also inter- (CISMeF)
- Ollier disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maffucci syndrome [ORDO Disease]
- Maffucci syndrome [DO Concept]
- Maffucci syndrome [MedDRA Preferred Term]
- Maffucci syndrome (disorder) [SNOMED CT concept]
- Multiple enchondromatosis, maffucci type [OMIM Phenotype]
- Ollier disease [DO Concept]
- maffucci syndrome [MeSH concept]
- maffucci syndrome [SNOMED Notion]
concept_is_in_subset
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_associated_disease
- Enchondroma [NCIt concept]
- Hemangioma [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
may_be_associated_disease_of_disease
- Ovarian Fibrosarcoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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