Preferred Label : Phosphaturic Mesenchymal Tumor;
NCIt synonyms : Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Variant; Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type; PMT;
NCIt definition : An extremely rare, benign or malignant mesenchymal tumor arising from soft tissue
or bone. It is a distinctive tumor, usually displaying the following morphologic characteristics:
low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like
vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of
a paraneoplastic syndrome called oncogenic osteomalacia. This syndrome usually precedes
the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia,
normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients
present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances,
skeletal deformity, height loss, and slow growth. The metabolic disturbances improve
or completely disappear after the complete resection of the tumor.;
Neoplastic status : Undetermined;
Origin ID : C67237;
UMLS CUI : C1831619;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Disease excludes normal cell origin
- Disease may have findings
- Excludes anatomical site(s)
- False automatic mappings
- Has associated anatomic sites
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_abnormal_cell
- disease_has_associated_disease
- disease_has_finding
- disease_has_normal_cell_origin
- disease_has_normal_tissue_origin
- disease_mapped_to_gene
- disease_may_have_molecular_abnormality
- pathogenesis_of_disease_involves_gene
