Alpha Heavy Chain Disease

Preferred Label : Alpha Heavy Chain Disease;

NCIt synonyms : Mediterranean Lymphoma; Mediterranean Abdominal Lymphoma; IPSID;

NCIt related terms : Immunoproliferative disease, NOS; Immunoproliferative small intestinal diseases; Immunoproliferative small intestinal disease;

NCIt definition : A clonal disorder, also known as immunoproliferative small intestinal disease or Mediterranean lymphoma, characterized by the secretion of a defective alpha heavy chain. It predominantly affects young people in the Mediterranean region. It involves the small intestine, and patients usually present with malabsorption syndrome, abdominal pain, weight loss, and fever. There is extensive villous atrophy of the small intestinal mucosa, which is heavily infiltrated by small lymphocytes and plasma cells. The small intestinal morphologic changes are consistent with a mucosa-associated lymphoid tissue lymphoma (MALT lymphoma).;

Neoplastic status : Malignant;

ICD-O code : 9764/3; 9760/3;

Codes from synonyms : C88.3;

Details

Origin ID

C3132;

UMLS CUI

C0021071;

Automatic exact mappings (from CISMeF team)
- Alpha heavy chain disease, enteric form (disorder) [SNOMED CT concept]
- Immunoproliferative disease, NOS [ICD-O code]
- Immunoproliferative disease, NOS [ICD-11 Extension code]
- Immunoproliferative small intestinal disease [ICD-11 Extension code]
- Immunoproliferative small intestinal disease [ICD-11 More detail]
- Malignant immunoproliferative disease, unspecified [ICD-10 Sub-category]
- immunoproliferative disease, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Alpha heavy chain disease [ICD-11 Extension code]
- Alpha heavy chain disease [ICD-11 Subcategory]
- Alpha heavy chain disease [ICD-10 Sub-category (who)]
- Alpha heavy chain disease (disorder) [SNOMED CT concept]
- Alpha-heavy chain disease [ORDO Disease]
- Heavy chain disease (morphologic abnormality) [SNOMED CT concept]
- IgA heavy chain paraproteinemia [HPO term]
- Immunoproliferative small intestinal disease [ICD-10 Sub-category]
- Immunoproliferative small intestinal disease [ICD-10 Sub-category (who)]
- Immunoproliferative small intestinal disease [ICD-O code]
- Immunoproliferative small intestinal disease [ORDO Disease]
- alpha heavy chain disease [SNOMED Notion]
- immunoproliferative small intestinal disease [MeSH Descriptor]
- immunoproliferative small intestinal disease [MeSH concept]
- immunoproliferative small intestinal disease [SNOMED Notion]
- α-Heavy chain disease [PASCAL descriptor]
Disease excludes abnormal cell
- Lymphocyte Predominant Cell [NCIt concept]
- Neoplastic T-Lymphocyte and Neoplastic Natural Killer Cell [NCIt concept]
- Reed-Sternberg Cell [NCIt concept]
Disease excludes normal cell origin
- Myeloid Cell [NCIt concept]
- Plasma Cell [NCIt concept]
- Precursor B-Lymphoblast [NCIt concept]
Disease may have findings
- Abdominal Pain [NCIt concept]
- Diarrhea [NCIt concept]
- Fever [NCIt concept]
- Hypocalcemia [NCIt concept]
- Lymphoepithelial Lesion [NCIt concept]
- Malabsorption Syndrome [NCIt concept]
- Unfavorable Clinical Outcome [NCIt concept]
- Weight Loss [NCIt concept]
False automatic mappings
- Immunoproliferative small intestinal disease (disorder) [SNOMED CT concept]
- Immunoproliferative small intestinal disease (morphologic abnormality) [SNOMED CT concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
- Intestine [NCIt concept]
- Lymphatic System [NCIt concept]
- Small Intestine [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha heavy chain disease [MedDRA LLT]
- Alpha heavy chain disease [ICD-10 Sub-category (who)]
- Alpha heavy chain disease (disorder) [SNOMED CT concept]
- Alpha heavy chain disease, enteric form (disorder) [SNOMED CT concept]
- Alpha-heavy chain disease [ORDO Disease]
- IgA heavy chain disease [MedDRA LLT]
- Immunoproliferative small intestinal disease [ORDO Disease]
- Immunoproliferative small intestinal disease [ICD-O code]
- Immunoproliferative small intestinal disease [ICD-10 Sub-category]
- Immunoproliferative small intestinal disease [ICD-10 Sub-category (who)]
- Immunoproliferative small intestinal disease (disorder) [SNOMED CT concept]
- Immunoproliferative small intestinal disease (morphologic abnormality) [SNOMED CT concept]
- alpha heavy chain disease [SNOMED Notion]
- immunoproliferative small intestinal disease [MeSH concept]
- immunoproliferative small intestinal disease [SNOMED Notion]
- immunoproliferative small intestinal disease [MeSH Descriptor]
- immunoproliferative small intestinal disorder [Disease (Nov.)]
- α-Heavy chain disease [PASCAL descriptor]
Validated automatic mappings to NTBT
- immunoproliferative small intestinal disorder [Disease (Nov.)]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
- mCode Cancer Disorder Value Set [NCIt concept]
- mCode Elixhauser Lymphoma Value Set [NCIt concept]
- mCode Primary Cancer Disorder Value Set [NCIt concept]
- mCode Primary Malignant Neoplasm Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Abnormal Lymphocyte [NCIt concept]
- Centrocyte-Like Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Neoplastic B-Lymphocyte [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Lymphocyte [NCIt concept]
disease_has_associated_disease
- Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
disease_has_finding
- Defective Alpha Heavy Chain Present [NCIt concept]
- Defective Heavy Chain Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Villous Atrophy [NCIt concept]
disease_has_molecular_abnormality
- Clonal Immunoglobulin Gene Rearrangement [NCIt concept]
disease_has_normal_cell_origin
- B-Lymphocyte [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
- Lymphocyte [NCIt concept]
- Mature B-Lymphocyte [NCIt concept]
- Postgerminal Center Marginal Zone B-Lymphocyte [NCIt concept]
disease_has_normal_tissue_origin
- Gut-Associated Lymphoid Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
- Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
- Lymphatic System [NCIt concept]
- Small Intestine [NCIt concept]
disease_may_have_abnormal_cell
- Neoplastic Monocytoid B-Lymphocyte [NCIt concept]
- Neoplastic Plasma Cell [NCIt concept]
disease_may_have_associated_disease
- Campylobacter Jejuni Infection [NCIt concept]

Keyword's position in hierarchy(ies) :

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