Down Syndrome - CISMeF

Preferred Label : Down Syndrome;

NCIt synonyms : Trisomy 21 Syndrome; Trisomy 21 (Down Syndrome);

NCIt related terms : Trisomy 21; Down's 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.;

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

Codes from synonyms : CDR0000045488;

Details

Origin ID

C2993;

UMLS CUI

C0013080;

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 [PASCAL descriptor]
- Down syndrome [ICD-10 category]
- Down syndrome [DO Concept]
- Down syndrome [Disease (Nov.)]
- Down syndrome [ORDO Disease]
- Down syndrome [OMIM Phenotype]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [LOINC component]
- Down's syndrome [HPMULTI term]
- Down's syndrome [ICD-9 code]
- Down's syndrome [MedDRA LLT]
- 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 [TUV Concept]
- Trisomy 21 [LOINC component]
- Trisomy 21 [MedDRA Preferred Term]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
- down syndrome [MeSH Descriptor]
- down syndrome [MeSH concept]
DO Cross reference
- Down syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 21 trisomy [LOINC component]
- Complete trisomy 21 syndrome (disorder) [SNOMED CT concept]
- DOWN'S SYNDROME [WHO-ART Included Term]
- Down syndrome [ORDO Disease]
- Down syndrome [OMIM Phenotype]
- Down syndrome [ICD-10 category]
- Down syndrome [DO Concept]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [LOINC component]
- Down's syndrome [MedDRA LLT]
- 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]
- Mongolism [MedDRA LLT]
- Syndrome Down's [MedDRA LLT]
- Trisomy 21 [MedDRA Preferred Term]
- Trisomy 21 [TUV Concept]
- Trisomy 21 (morphologic abnormality) [SNOMED CT concept]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MeSH concept]
- down syndrome [MedlinePlus Topic]
- down syndrome [MeSH Descriptor]
Validated automatic mappings to NTBT
- trisomy [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Calcipressin-1 [NCIt concept]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_disease
- B Acute Lymphoblastic Leukemia Associated with Down Syndrome [NCIt concept]
- Hematologic Neoplasm Associated with Down Syndrome [NCIt concept]
- Myeloid Leukemia Associated with Down Syndrome [NCIt concept]
- Transient Abnormal Myelopoiesis Associated with Down Syndrome [NCIt concept]
disease_has_associated_gene
- RCAN1 Gene [NCIt concept]
- RCAN1 wt Allele [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 21 [NCIt concept]

Keyword's position in hierarchy(ies) :

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