Complete Trisomy 21 Syndrome

Preferred Label : Complete Trisomy 21 Syndrome;

NCIt related terms : Down Syndrome;

NCIt 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.;

Alternative definition : NICHD: 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.;

NCI Metathesaurus CUI : CL435606;

Details

Origin ID

C101222;

UMLS CUI

C4521042;

Automatic exact mappings (from CISMeF team)
- down's syndrome [EMDN type]
Currated CISMeF NLP mapping
- Chromosome 21 trisomy [LOINC component]
- Complete trisomy 21 [ICD-11 Subcategory]
- Complete trisomy 21 syndrome (disorder) [SNOMED CT concept]
- DOWN'S SYNDROME [WHO-ART Included Term]
- Down syndrome [DO Concept]
- Down syndrome [PASCAL descriptor]
- Down syndrome [ICD-10 category]
- Down syndrome [ORDO Disease]
- Down syndrome [Disease (Nov.)]
- Down syndrome [OMIM Phenotype]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [LOINC component]
- Down's syndrome [MedDRA LLT]
- Down's syndrome [HPMULTI term]
- Down's syndrome [ICD-9 code]
- Downs syndrome [ICD-10 category (who)]
- Downs syndrome, unspecified [ICD-10 Sub-category (who)]
- MONGOLISM [WHO-ART Preferred Term]
- Syndrome Down's [MedDRA LLT]
- Trisomy 21 [MedDRA Preferred Term]
- Trisomy 21 [TUV Concept]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
- down syndrome [MeSH concept]
- down syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Downs syndrome [ICD-10 category (who)]
- Downs syndrome, unspecified [ICD-10 Sub-category (who)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_molecular_abnormality
- Trisomy 21 [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 21 [NCIt concept]

Keyword's position in hierarchy(ies) :

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