National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Trisomy

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3421

ALT_DEFINITION

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).

code

C3421

DEFINITION

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

label

Trisomy

Legacy_Concept_Name

Trisomy

Preferred_Name

Trisomy

prefixIRI

C3421

prefLabel

Trisomy

Semantic_Type

Cell or Molecular Dysfunction

UMLS_CUI

C0041107

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2873

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http://purl.bioontology.org/ontology/MESH/D014314 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/PATO_0001389 Human Phenotype Ontology China LOOM
http://purl.obolibrary.org/obo/PATO_0001389 Phenotypic Quality Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP36157-3 Logical Observation Identifier Names and Codes LOOM