Cherubism - CISMeF

Preferred Label : Cherubism;

NCIt synonyms : Familial Multilocular Cystic Disease of the Jaws; Familial Fibrous Dysplasia of the Jaws;

NCIt definition : A rare autosomal dominant inherited disorder usually caused by mutations in the SH3BP2 gene. It is characterized by a prominent lower part of the face due to bilateral replacement of the mandibular or maxillary bones by lesions. The lesions contain osteoclast-like cells admixed with spindle-shaped mononuclear stromal cells. With time, the lesions become more fibrotic and less osteoclast-rich.;

Details

Origin ID

C84630;

UMLS CUI

C0008029;

Automatic exact mappings (from CISMeF team)
- Cherubism [ACR pathology]
- Cherubism [ICD-11 Sub-sub category]
- Familial fibrous dysplasia of jaw [ICD-11 More detail]
- Other specified diseases of jaws [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Cherubism [MedDRA LLT]
- Cherubism [PASCAL descriptor]
- Cherubism [OMIM Phenotype]
- Cherubism [ORDO Disease]
- Fibrous dysplasia of jaw [MedDRA Preferred Term]
- Fibrous dysplasia of jaw (disorder) [SNOMED CT concept]
- cherubism [Disease (Nov.)]
- cherubism [DO Concept]
- cherubism [MeSH Descriptor]
- cherubism [MeSH concept]
- cherubism [SNOMED Notion]
- cherubism [Radlex concept]
- fibrous dysplasia of jaw [SNOMED Notion]
DO Cross reference
- cherubism [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cherubism [ORDO Disease]
- Cherubism [MedDRA LLT]
- Cherubism [OMIM Phenotype]
- Cherubism [PASCAL descriptor]
- Fibrous dysplasia of jaw [MedDRA Preferred Term]
- Fibrous dysplasia of jaw (disorder) [SNOMED CT concept]
- cherubism [Radlex concept]
- cherubism [DO Concept]
- cherubism [Disease (Nov.)]
- cherubism [MeSH concept]
- cherubism [MeSH Descriptor]
- cherubism [SNOMED Notion]
- fibrous dysplasia of jaw [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Lower Face Prominence [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- SH3BP2 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- SH3BP2 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- SH3BP2 Gene [NCIt concept]
- SH3BP2 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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