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Maffucci Syndrome (CUI C0024454) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0024454

NCI Thesaurus Code: C3213  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

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.

GARD Definition: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
Chondrodysplasia with Hemangioma
Chondroplasia Angiomatosis
Dyschondrodysplasia with Hemangiomas
Dyschondroplasia and cavernous haemangioma
Dyschondroplasia and Cavernous Hemangioma
Enchondromatosis with Hemangiomata
Enchondromatosis with Multiple Cavernous Hemangiomas
Haemangiomata with dyschondroplasia
Hemangiomata with Dyschondroplasia
Hemangiomatosis Chondrodystrophica
Kast Syndrome
Maffucci syndrome (disorder)
Maffucci syndrome
Maffucci Syndrom
Maffucci's Anomalad
Maffucci's syndrome
Multiple Angiomas and Endochondromas
MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE
Syndrome, Maffucci

External Source Codes: 
NCI Thesaurus Code C3213 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XE1M9 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 4613 GARD
DISEASE_IDENTIFIER_ID 4614 GARD
DISEASE_IDENTIFIER_ID 4615 GARD
DISEASE_IDENTIFIER_ID 4616 GARD
DISEASE_IDENTIFIER_ID 4617 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2006-02-27T00:00:00 GARD
MIMTYPE 5 OMIM
MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. OMIM
MIMTYPEVALUE perc OMIM
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6958/maffucci-syndrome/resources/1 GARD
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q78.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q78.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q78.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q78.4 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE1M9 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T014383 MSH
TERMUI T746066 MSH
TERMUI T746067 MSH
TERMUI T746068 MSH
TERMUI T746069 MSH
TERMUI T746070 MSH
TERMUI T841943 MSH
TERMUI T841944 MSH
TERMUI T841945 MSH
TERMUI T841946 MSH
TERMUI T841947 MSH
TH GHR (2014) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0024454

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