Preferred Name

Trisomy 21

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43224

ALT_DEFINITION

A chromosomal abnormality consisting of the presence of part or all of a third copy of chromosome 21 in somatic cells.

code

C43224

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178115

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173201

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174019

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178102

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142800

Contributing_Source

ACC/AHA

CTRP

Cellosaurus

PCDC

DEFINITION

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

Display_Name

Trisomy 21

FULL_SYN

Trisomy 21

Trisomy-21

Is_PCDC_ALL_Authorized_Value_For_Variable

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18772

Is_PCDC_AML_Authorized_Value_For_Variable

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54056

label

Trisomy 21

Legacy Concept Name

Trisomy_21

Preferred_Name

Trisomy 21

prefixIRI

Thesaurus:C43224

prefLabel

Trisomy 21

Semantic_Type

Cell or Molecular Dysfunction

UMLS_CUI

C3537167

subClassOf

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

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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.obolibrary.org/obo/MONDO_0700126 Mondo Disease Ontology / Mondo疾病本体 LOOM
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/MEDLINEPLUS/C0013080 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM