MeSH Browser

MeSH Heading: Down Syndrome
Tree Number(s): C10.597.606.360.220; C16.131.077.327; C16.131.260.260; C16.320.180.260
Unique ID: D004314
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D004314
Scope Note: A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Entry Term(s): 47,XX,+21; 47,XY,+21; Down Syndrome, Partial Trisomy 21; Down's Syndrome; Mongolism; Partial Trisomy 21 Down Syndrome; Trisomy 21; Trisomy 21, Meiotic Nondisjunction; Trisomy 21, Mitotic Nondisjunction; Trisomy G
Public MeSH Note: 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
Online Note: use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74
History Note: 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
Date Established: 1993/01/01
Date of Entry: 1999/01/01
Revision Date: 2022/05/23

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Neurologic Manifestations [C10.597]
  - Neurobehavioral Manifestations [C10.597.606]
    - Intellectual Disability [C10.597.606.360]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Abnormalities, Multiple [C16.131.077]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Chromosome Disorders [C16.131.260]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Chromosome Disorders [C16.320.180]

Down Syndrome Preferred

Concept UI: M0006778
Scope Note: A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Terms: Down Syndrome Preferred Term
Term UI T013181
Date01/01/1999
LexicalTag EPO
ThesaurusID; Down's Syndrome
Term UI T013180
Date01/03/1992
LexicalTag EPO
ThesaurusID; Mongolism
Term UI T013182
Date12/27/1974
LexicalTag NON
ThesaurusID BIOETHICS (1989); Trisomy 21
Term UI T013183
Date12/07/1990
LexicalTag NON
ThesaurusID; Trisomy G
Term UI T841304
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); 47,XX,+21
Term UI T845649
Date06/14/2013
LexicalTag NON
ThesaurusID GHR (2014); 47,XY,+21
Term UI T845650
Date06/14/2013
LexicalTag NON
ThesaurusID GHR (2014)

Down Syndrome, Partial Trisomy 21 Narrower

Trisomy 21, Meiotic Nondisjunction Narrower

Trisomy 21, Mitotic Nondisjunction Narrower

Down Syndrome MeSH Descriptor Data 2025