National Drug File - Reference Terminology

Last uploaded: July 6, 2018
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Preferred Name

Chromosome Disorders [Disease/Finding]
Synonyms

Chromosomal Disorders

Chromosome Abnormality Disorders

Chromosome Disorders
ID

http://purl.bioontology.org/ontology/NDFRT/N0000000784
altLabel

Chromosomal Disorders

Chromosome Abnormality Disorders

Chromosome Disorders
cui

C0008626
MESH DEFINITION

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
MESH DUI

D025063
MeSH name

Chromosome Disorders
MESH UI

M0373367
NDFRT kind

DISEASE_KIND
notation

N0000000784
NUI

N0000000784
prefLabel

Chromosome Disorders [Disease/Finding]
SNOMED CID

409709004

74345006
tui

T019
subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000011105
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD9CM/758 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRGER/10008824 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10008810 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10008814 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q99.9 ICD10 CUI
http://purl.bioontology.org/ontology/ICD9CM/758.9 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/PJ... RCD CUI
http://purl.bioontology.org/ontology/WHO/1107 WHO-ART CUI
http://purl.bioontology.org/ontology/ICD10CM/Q99.9 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/409709004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10008815 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10008814 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10008814 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10067477 MDRGER CUI
http://purl.bioontology.org/ontology/ICPC2P/A90002 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRFRE/10008824 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10067477 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10010270 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/409709004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10008824 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1254-7954 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10010270 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10008810 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/74345006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D025063 MESH CUI
http://purl.bioontology.org/ontology/CST/CHROMOSOME%20ABNORM COSTART CUI
http://purl.bioontology.org/ontology/MEDDRA/10008815 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10008815 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10008810 MDRGER CUI
http://purl.bioontology.org/ontology/WHOFRE/1107 WHOFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D025063 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-02000 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10067477 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10010270 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/74345006 SCTSPA CUI