Pediatric Terminology

Last uploaded: January 25, 2013
Preferred Name

Complete_Trisomy_21_Syndrome

Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Complete_Trisomy_21_Syndrome

ID

C101222

NCI_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.

NCI_PT

Complete Trisomy 21 Syndrome

NICHD_Definition

_

prefixIRI

Complete_Trisomy_21_Syndrome

prefLabel

Complete_Trisomy_21_Syndrome

Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology

SYN

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Chromosome_Abnormality

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