Trisomy 21 - CISMeF

Preferred Label : Trisomy 21;

NCIt related terms : Trisomy-21;

NCIt definition : A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells.;

Alternative definition : ACC/AHA: A chromosomal abnormality consisting of the presence of part or all of a third copy of chromosome 21 in somatic cells.;

Details

Origin ID

C43224;

UMLS CUI

C3537167;

Currated CISMeF NLP mapping
- Chromosome 21 trisomy [LOINC component]
- Complete trisomy 21 syndrome (disorder) [SNOMED CT concept]
- DOWN'S SYNDROME [WHO-ART Included Term]
- Down syndrome [ICD-10 category]
- Down syndrome [Disease (Nov.)]
- Down syndrome [DO Concept]
- Down syndrome [PASCAL descriptor]
- Down syndrome [ORDO Disease]
- Down syndrome [OMIM Phenotype]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [MedDRA LLT]
- Down's syndrome [LOINC component]
- 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 [LOINC component]
- Trisomy 21 [MedDRA Preferred Term]
- Trisomy 21 [TUV Concept]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MeSH concept]
- down syndrome [MeSH Descriptor]
- down syndrome [MedlinePlus Topic]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 21 trisomy [LOINC component]
- Trisomy 21 [LOINC component]
Validated automatic mappings to NTBT
- trisomy [Disease (Nov.)]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- ALL Authorized Value Terminology [NCIt concept]
- ALL Medical History Table [NCIt concept]
- AML Authorized Value Terminology [NCIt concept]
- AML Medical History Table [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 21 [NCIt concept]
is_cytogenetic_abnormality_of_disease
- 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]
is_molecular_abnormality_of_disease
- Complete Trisomy 21 Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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