Erdheim-Chester Disease

Preferred Label : Erdheim-Chester Disease;

NCIt synonyms : Polyostotic Sclerosing Histiocytosis; Lipogranulomatosis; ECD;

NCIt definition : A very rare, multisystem non-Langerhans cell histiocytosis that predominantly affects adults. It is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. Patients may present with bone pain, exophthalmos, ataxia, liver failure, kidney failure, and hypopituitarism.;

Neoplastic status : Undetermined;

Details

Origin ID

C53972;

UMLS CUI

C0878675;

Automatic exact mappings (from CISMeF team)
- Atrioventricular septal defect [OMIM Phenotype]
- Ecdysoneless cell cycle regulator [OMIM gene]
- Lipogranulomatosis [PASCAL descriptor]
- Lipogranulomatosis [HPO term]
- Lipogranulomatosis [ICD-11 More detail]
- SEM1 26S proteasome subunit [ORDO Gene]
- Split-hand/foot malformation 1 [OMIM Phenotype]
- atrioventricular septal defect [DO Concept]
Currated CISMeF NLP mapping
- Erdheim-Chester disease [PASCAL descriptor]
- Erdheim-Chester disease [DO Concept]
- Erdheim-Chester disease [ICD-11 Extension code]
- Erdheim-Chester disease [ICD-11 Extension code]
- Erdheim-Chester disease [MedDRA Preferred Term]
- Erdheim-Chester disease [MeSH Descriptor]
- Erdheim-Chester disease [MeSH concept]
- Erdheim-Chester disease [Radlex concept]
- Erdheim-Chester disease [ORDO Disease]
- Erdheim-Chester disease (disorder) [SNOMED CT concept]
- erdheim chester disease [Disease (Nov.)]
DO Cross reference
- Erdheim-Chester disease [DO Concept]
Disease may have findings
- Bone Pain [NCIt concept]
- CD68-Positive Neoplastic Cells Present [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- Erdheim-Chester disease (morphologic abnormality) [Inactive SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erdheim-Chester disease [ORDO Disease]
- Erdheim-Chester disease [Radlex concept]
- Erdheim-Chester disease [PASCAL descriptor]
- Erdheim-Chester disease [DO Concept]
- Erdheim-Chester disease [MedDRA Preferred Term]
- Erdheim-Chester disease [MeSH Descriptor]
- Erdheim-Chester disease [MeSH concept]
- Erdheim-Chester disease (disorder) [SNOMED CT concept]
- Erdheim-Chester disease (morphologic abnormality) [Inactive SNOMED CT concept]
- Erdheim-Chester disease (morphologic abnormality) [SNOMED CT concept]
- erdheim chester disease [Disease (Nov.)]
concept_is_in_subset
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
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]
pathogenesis_of_disease_involves_gene
- BRAF Gene [NCIt concept]
- BRAF wt Allele [NCIt concept]

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