loading...| Preferred Name |
Complete Trisomy 21 Syndrome |
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| Synonyms |
Complete Trisomy 21 Syndrome Down Syndrome |
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| Definitions |
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101222 |
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| ALT_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. |
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| code |
C101222 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
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| Contributing_Source |
NICHD |
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| DEFINITION |
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. |
|
| FULL_SYN |
Complete Trisomy 21 Syndrome Down Syndrome |
|
| label |
Complete Trisomy 21 Syndrome |
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| NCI_META_CUI |
CL435606 |
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| Preferred_Name |
Complete Trisomy 21 Syndrome |
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| prefixIRI |
Thesaurus:C101222 |
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| Semantic_Type |
Disease or Syndrome |
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| subClassOf |