Rosai-Dorfman-Destombes Disease

Preferred Label : Rosai-Dorfman-Destombes Disease;

NCIt synonyms : Sinus Histiocytosis with Massive Lymphadenopathy; SHML; Rosai-Dorfman Disease; RDD; Destombes-Rosai-Dorfman Disease;

NCIt definition : A rare histiocytic disorder of unknown etiology, characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes and are S100 and CD68 positive, and CD1a negative. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It occurs in isolation or may be associated with autoimmune disorders or malignancies. Mutations in NRAS, KRAS, MAP2K1, and ARAF genes have been identified in affected tissues, suggesting a clonal origin in some cases. It is a self-limited disorder, although some patients may have a poor prognosis.;

Neoplastic status : Undetermined;

Details

Origin ID

C36075;

UMLS CUI

C0019625;

Automatic exact mappings (from CISMeF team)
- Histiocytosis-lymphadenopathy plus syndrome [OMIM Phenotype]
- Other histiocytosis syndromes [ICD-10 Sub-category]
- Other histiocytosis syndromes [ICD-10 Sub-category (who)]
- Rosai Dorfman disease [PASCAL descriptor]
- Rosai-Dorfman disease [Radlex concept]
- histiocytosis, sinus [MeSH concept]
- histiocytosis, sinus [MeSH Descriptor]
- histiocytosis-lymphadenopathy plus syndrome [DO Concept]
Currated CISMeF NLP mapping
- Rosai-Dorfman syndrome [MedDRA Preferred Term]
- Rosaï-Dorfman disease [ORDO Disease]
- Sinus histiocytosis with massive lymphadenopathy [ICD-11 More detail]
- Sinus histiocytosis with massive lymphadenopathy (disorder) [SNOMED CT concept]
- sinus histiocytosis with massive lymphadenopathy [SNOMED Notion]
Disease may have findings
- Extranodal Disease [NCIt concept]
- Indolent Clinical Course [NCIt concept]
Has associated anatomic sites
- Hematopoietic System [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
- Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rosai-Dorfman disease [Radlex concept]
- Rosai-Dorfman syndrome [MedDRA Preferred Term]
- Rosaï-Dorfman disease [ORDO Disease]
- Sinus histiocytosis [MedDRA LLT]
- Sinus histiocytosis (morphologic abnormality) [SNOMED CT concept]
- Sinus histiocytosis with massive lymphadenopathy (disorder) [SNOMED CT concept]
- histiocytosis, sinus [MeSH concept]
- histiocytosis, sinus [MeSH Descriptor]
- sinus histiocytosis [SNOMED Notion]
- sinus histiocytosis with massive lymphadenopathy [SNOMED Notion]
disease_excludes_finding
- CD1a-Positive Neoplastic Cells Present [NCIt concept]
- 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
- Atypical Histiocyte [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Histiocytic and Dendritic Cell [NCIt concept]
disease_has_finding
- CD68-Positive Neoplastic Cells Present [NCIt concept]
- Cervical Lymphadenopathy [NCIt concept]
- Fever [NCIt concept]
- Histiocytosis [NCIt concept]
- Polyclonal Hypergammaglobulinemia [NCIt concept]
- Rare Lesion [NCIt concept]
- S-100-Positive Neoplastic Cells Present [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 Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
- Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_may_have_molecular_abnormality
- ARAF Gene Mutation [NCIt concept]
- KRAS Gene Mutation [NCIt concept]
- MAP2K1 Gene Mutation [NCIt concept]
- NRAS Gene Mutation [NCIt concept]
may_be_associated_disease_of_disease
- Autoimmune Lymphoproliferative Syndrome [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with FAS Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FADD Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FAS Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FASLG Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Other Specified FAS Pathway Germline Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Somatic FAS Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation [NCIt concept]

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