heavy chain disease

Preferred Label : heavy chain disease;

MeSH definition : A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.;

MeSH synonym : heavy chain diseases;

MeSH hyponym : mu-Chain disease; mu Chain Disease; mu-Chain Diseases;

Related MeSH term : gamma-Chain disease; gamma Chain Disease; gamma-Chain Diseases; Franklin Disease; Franklin's Disease; Franklins Disease;

MeSH annotation : specify the immunoglobulin fragment coord NIM, as gamma chain dis HEAVY CHAIN DISEASE (IM) IMMUNOGLOBULIN GAMMA-CHAINS (NIM); ALPHA-CHAIN DISEASE see IMMUNOPROLIFERATIVE SMALL INTESTINAL DISEASE is available;

Wikipedia link : https://en.wikipedia.org/wiki/Heavy chain diseases;

Details

Origin ID

D006362;

UMLS CUI

C0018852;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Mu Heavy Chain Disease [NCIt concept]
- Mu heavy chain disease [ICD-11 Subcategory]
- Mu heavy chain disease [ICD-11 Extension code]
- Mu heavy chain disease (disorder) [SNOMED CT concept]
- Mu-heavy chain disease [ORDO Disease]
- mu chain disease [DO Concept]
- μ-Heavy chain disease [PASCAL descriptor]
CISMeF manual mappings
- heavy chain disorder [Disease (Nov.)]
Currated CISMeF NLP mapping
- Gamma Heavy Chain Disease [NCIt concept]
- Gamma heavy chain disease [ICD-11 Subcategory]
- Gamma heavy chain disease [ICD-11 Extension code]
- Gamma heavy chain disease [ICD-10 Sub-category (who)]
- Gamma heavy chain disease (disorder) [SNOMED CT concept]
- Gamma-heavy chain disease [ORDO Disease]
- Heavy Chain Disease [NCIt concept]
- Heavy chain disease [PASCAL descriptor]
- Heavy chain disease [ICD-10 Sub-category]
- Heavy chain disease [MedDRA Preferred Term]
- Heavy chain disease [ORDO Disease]
- Heavy chain disease (disorder) [SNOMED CT concept]
- Heavy chain disease (morphologic abnormality) [SNOMED CT concept]
- Heavy chain disease, NOS [ICD-O code]
- alpha heavy chain disease [SNOMED Notion]
- gamma heavy chain disease [DO Concept]
- heavy chain disease [DO Concept]
- heavy chain disease, nos [SNOMED Notion]
- γ-Heavy chain disease [PASCAL descriptor]
DO Cross reference
- heavy chain disease [DO Concept]
ORDO relation(s)
- Heavy chain disease [ORDO Disease]
Record concept(s)
- gamma-Chain disease [MeSH concept]
- heavy chain disease [MeSH concept]
- mu-Chain disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- CHA heavy chain disease protein, human [MeSH Supplementary Concept]
- FOR heavy chain disease protein, human [MeSH Supplementary Concept]
- IGHM protein, human [MeSH Supplementary Concept]
- RIV immunoglobulin variant protein, human [MeSH Supplementary Concept]
- heavy chain disease proteins, human [MeSH Supplementary Concept]
- wis heavy-chain disease protein, human [MeSH Supplementary Concept]
See also
- immunoglobulin heavy chains [MeSH Descriptor]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Heavy Chain Disease [NCIt concept]
- Heavy chain disease [ORDO Disease]
- Heavy chain disease [MedDRA Preferred Term]
- Heavy chain disease [ICD-10 Sub-category]
- Heavy chain disease [PASCAL descriptor]
- Heavy chain disease (disorder) [SNOMED CT concept]
- Heavy chain disease (morphologic abnormality) [SNOMED CT concept]
- Heavy chain disease, NOS [ICD-O code]
- heavy chain disease [DO Concept]
- heavy chain disease, nos [SNOMED Notion]
- heavy chain disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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