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Down Syndrome (CUI C0013080) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0013080

NCI Thesaurus Code: C2993  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome.

GARD Definition: Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited. Treatment focuses on the specific symptoms in each person. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different.

People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton.

The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

NIH: National Institute of Child Health and Human Development

NCI-GLOSS Definition: A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features.

NICHD Definition: A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism.

CSP Definition: 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, simian crease, and moderate to severe mental retardation.

MSH Definition: 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, Simian 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)

Synonyms & Abbreviations: (see Synonym Details)
47,XX,+21
47,XY,+21
Chromosome 21 trisomy
Complete trisomy 21 syndrome (disorder)
Complete trisomy 21 syndrome
Down Syndrome [Disease/Finding]
Down syndrome, unspecified
Down syndrome
Down's syndrome, unspecified
Down's syndrome
Downs syndrome
G Trisomy
mongolism
MONGOLOIDISM
SYNDROME DOWN'S
Syndrome, Down's
Syndrome, Down
T21 - Trisomy 21
Trisomy 21 (Down Syndrome)
Trisomy 21 NOS
trisomy 21 syndrome
TRISOMY 21
Trisomy G

External Source Codes: 
NCI Thesaurus Code C2993 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XE1MZ SNOMEDCT_US
DATE_CREATED 07/26/1999 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1254-8068 CSP
DISEASE_IDENTIFIER_ID 21503 GARD
DISEASE_IDENTIFIER_ID 21504 GARD
DX 19930101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
GENELOCUS ,X,p,1,1,.,2,3, OMIM
GENESYMBOL ERYF1 OMIM
GENESYMBOL GATA1 OMIM
GENESYMBOL GF1 OMIM
GENESYMBOL NFE1 OMIM
GENESYMBOL XLANP OMIM
GENESYMBOL XLTDA OMIM
GENESYMBOL XLTT OMIM
HAS_GARD_PAGE true GARD
HN 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 MSH
HN ETOH descriptor 2000. AOD
IAN DEFAULT ICD10
ICE Mongolism; Translocation Down's syndrome; Trisomy:; or 22 {G} ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Trisomy 21 NOS ICD10
IS_ACTIVE true GARD
IS_RARE false GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION 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, Simian 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) NDFRT
MESH_DUI D004314 NDFRT
MESH_NAME Down Syndrome NDFRT
MESH_UI M0006778 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.597.606.643.220 MSH
MN C16.131.077.327 MSH
MN C16.131.260.260 MSH
MN C16.320.180.260 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 264450 OMIM
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/downsyndrome.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/downsyndrome.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Child Health and Human Development http://www.nichd.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Trisomy 21 NCI
NUI N0000000996 NDFRT
OL use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74 MSH
ORDER_NO 28147 ICD10CM
ORDER_NO 28151 ICD10CM
PM 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 MSH
PRIMARY_PATH 10044688$10003842$10008804$10010331$Trisomy 21$Autosomal chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/10247/down-syndrome/resources/1 GARD
RXAUI 3149072 RXNORM
RXAUI 3149073 RXNORM
RXAUI 3149075 RXNORM
RXAUI 3199366 RXNORM
RXAUI 3250905 RXNORM
RXAUI 5930063 RXNORM
RXAUI 5930064 RXNORM
RXAUI 5932388 RXNORM
RXCUI 1023536 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 41040004 NDFRT
SNOMEDID D4-02214 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q90.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q90.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF FETUS WITH COMPLETE TRISOMY 21 SYNDROME CHOOSE O35.1XX0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | CONSIDER WHICH FETUS IS AFFECTED BY THE MATERNAL CONDITION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH DOWN SYNDROME CHOOSE K05.30 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH DOWN SYNDROME CHOOSE Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF TRISOMY 21- MEIOTIC NONDISJUNCTION CHOOSE Q90.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 125501000119105 | Fetus with complete trisomy 21 syndrome (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 205615000 | Trisomy 21- meiotic nondisjunction (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 709469005 | Periodontitis co-occurrent with Down syndrome (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~K05.30 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~O35.1XX0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q90.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q90.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE1MZ SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-02214 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T013180 MSH
TERMUI T013181 MSH
TERMUI T013182 MSH
TERMUI T013183 MSH
TERMUI T841304 MSH
TERMUI T845649 MSH
TERMUI T845650 MSH
TH BIOETHICS (1989) MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH NLM (1993) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US
USE_ADDITIONAL code(s) to identify any associated physical conditions and degree of intellectual disabilities (F70-F79) ICD10CM

Additional Concept Data:  (none)

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