Head and Neck Erdheim-Chester Disease

Preferred Label : Head and Neck Erdheim-Chester Disease;

NCIt definition : Erdheim-Chester disease that affects the head and neck region. Patients present with xanthelasma-like lesions in the face, neck, and around the eyes.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1922136;

Details

Origin ID

C202972;

UMLS CUI

C5908879;

Disease may have findings
- Bone Pain [NCIt concept]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- CD30-Positive Neoplastic Cells Present [NCIt concept]
- HMB-45-Positive Neoplastic Cells Present [NCIt concept]
disease_excludes_molecular_abnormality
- Clonal Immunoglobulin Gene Rearrangement [NCIt concept]
- Clonal T-Cell Receptor Gene Rearrangement [NCIt concept]
disease_has_abnormal_cell
- Lipid-Laden Macrophage [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Histiocytic and Dendritic Cell [NCIt concept]
- Neoplastic Multinucleated Giant Cell [NCIt concept]
disease_has_finding
- Histiocytosis [NCIt concept]
- Multifocal Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
- Histiocyte [NCIt concept]
- Histiocytic and Dendritic Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_may_have_associated_disease
- Ataxia [NCIt concept]
- Exophthalmos [NCIt concept]
- Hypopituitarism [NCIt concept]
- Liver Failure [NCIt concept]
- Renal Failure [NCIt concept]
disease_may_have_molecular_abnormality
- BRAF Gene Mutation [NCIt concept]

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