Trisomy - CISMeF

Preferred Label : Trisomy;

NCIt definition : A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.;

Alternative definition : NCI-GLOSS: The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or Down syndrome).;

Codes from synonyms : CDR0000460223;

Details

Origin ID

C3421;

UMLS CUI

C0041107;

Automatic exact mappings (from CISMeF team)
- Trisomies [LOINC Class]
Currated CISMeF NLP mapping
- Autosomal trisomy [ORDO Disease]
- Trisomy [PASCAL descriptor]
- Trisomy (morphologic abnormality) [SNOMED CT concept]
- trisomy [Disease (Nov.)]
- trisomy [MeSH Descriptor]
- trisomy [MeSH concept]
- trisomy [SNOMED Notion]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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