Preferred Name

Trisomy 21

Synonyms

Down Syndrome

Definitions

<p>Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different.</p> <p>People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton.</p> <p>The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.</p> <p class="">NIH: National Institute of Child Health and Human Development</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080

altLabel

Down Syndrome

cui

C0013080

Date created

07/26/1999

definition

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different.

People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton.

The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

NIH: National Institute of Child Health and Human Development

Inverse of RQ

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080

Inverse of SY

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/downsyndrome.html

MP PRIMARY INSTITUTE URL

Eunice Kennedy Shriver National Institute of Child Health and Human Development https://www.nichd.nih.gov/Pages/index.aspx

notation

C0013080

prefLabel

Trisomy 21

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0008073

Scope Statement

About 1 in 700 babies are born with the birth defect known as Down Syndrome. Learn about the different Down Syndrome types and related health issues. https://medlineplus.gov/downsyndrome.html

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

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http://purl.bioontology.org/ontology/LNC/MTHU052281 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/LP74785-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/MTHU020584 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/D004314 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43224 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0700126 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q90.9 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q90 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q90 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90.9 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/LNC/LP66880-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/OMIM/190685 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/LNC/LA20088-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/MTHU010201 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10/Q90.9 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI