| Descriptor English: | Down Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Down
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| Descriptor Portuguese: | Síndrome de Down | ||||||
| Descriptor French: | Syndrome de Down | ||||||
| Entry term(s): |
47,XX,+21 47,XY,+21 Down Syndrome, Partial Trisomy 21 Down's Syndrome Downs Syndrome Mongolism Partial Trisomy 21 Down Syndrome Syndrome, Down Syndrome, Down's Trisomy 21 Trisomy 21, Meiotic Nondisjunction Trisomy 21, Mitotic Nondisjunction Trisomy G |
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| Tree number(s): |
C10.597.606.360.220 C16.131.077.327 C16.131.260.260 C16.320.180.260 |
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| RDF Unique Identifier: | https://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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 |
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| Online Note: | use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74 |
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| History Note: | 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 |
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| DeCS ID: | 30934 | ||||||
| Unique ID: | D004314 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1993/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2018/06/30 |
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Down Syndrome
- Preferred
Trisomy 21, Mitotic Nondisjunction
- Narrower
Down Syndrome, Partial Trisomy 21
- Narrower
Trisomy 21, Meiotic Nondisjunction
- Narrower
| 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) |
| Preferred term | Down Syndrome |
| Entry term(s) |
47,XX,+21 47,XY,+21 Down's Syndrome Downs Syndrome Mongolism Syndrome, Down Syndrome, Down's Trisomy 21 Trisomy G |
| Concept UI |
M0335728 |
| Preferred term | Trisomy 21, Mitotic Nondisjunction |
| Concept UI |
M0335726 |
| Preferred term | Down Syndrome, Partial Trisomy 21 |
| Entry term(s) |
Partial Trisomy 21 Down Syndrome |
| Concept UI |
M0335727 |
| Preferred term | Trisomy 21, Meiotic Nondisjunction |
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