Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Chromosome Disorders
Synonyms

Autosomal Chromosome Disorder
Definitions

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)
ID

http://purl.bioontology.org/ontology/MESH/D025063
altLabel

Autosomal Chromosome Disorder

Disorders, Chromosome

Chromosome Disorder

Chromosomal Disorders

Chromosome Disorders, Autosomal

Chromosome Abnormality Disorder

Chromosome Disorder, Autosomal

Chromosomal Disorder

Disorder, Chromosome

Disorders, Chromosomal

Chromosome Abnormality Disorders

Disorder, Chromosomal

Disorder, Chromosome Abnormality

Autosomal Chromosome Disorders
AN

GEN or unspecified; prefer specifics; coord IM with specific numbered chromosome (IM)
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0969687

C0008626
DC

1
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)
DX

20020101
FX

D005826

D003582
HN

2002; see CHROMOSOMAL ABNORMALITIES 1978-1995
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D005826

http://purl.bioontology.org/ontology/MESH/D002869

http://purl.bioontology.org/ontology/MESH/D003582
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D065817

http://purl.bioontology.org/ontology/MESH/D000745

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D020294

http://purl.bioontology.org/ontology/MESH/D005124

http://purl.bioontology.org/ontology/MESH/D058631

http://purl.bioontology.org/ontology/MESH/D000014

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D010004

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D018376

http://purl.bioontology.org/ontology/MESH/D012868

http://purl.bioontology.org/ontology/MESH/D053306

http://purl.bioontology.org/ontology/MESH/D050174

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D010381

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D031845

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D050010

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D000016

http://purl.bioontology.org/ontology/MESH/D014564

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D065768

http://purl.bioontology.org/ontology/MESH/D000699

http://purl.bioontology.org/ontology/MESH/D009136

http://purl.bioontology.org/ontology/MESH/D009139

http://purl.bioontology.org/ontology/MESH/D000077428

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D000071070

http://purl.bioontology.org/ontology/MESH/D002636

http://purl.bioontology.org/ontology/MESH/D056660

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D009421

http://purl.bioontology.org/ontology/MESH/D054179

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D009008

http://purl.bioontology.org/ontology/MESH/D012857

http://purl.bioontology.org/ontology/MESH/D004065

http://purl.bioontology.org/ontology/MESH/D053840

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D010013

http://purl.bioontology.org/ontology/MESH/D056735

http://purl.bioontology.org/ontology/MESH/D008661

http://purl.bioontology.org/ontology/MESH/D058540

http://purl.bioontology.org/ontology/MESH/D052159

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D029502

http://purl.bioontology.org/ontology/MESH/D007619

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D049970

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006453

http://purl.bioontology.org/ontology/MESH/D015619

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D065630

http://purl.bioontology.org/ontology/MESH/D018640

http://purl.bioontology.org/ontology/MESH/D050033

http://purl.bioontology.org/ontology/MESH/D024741

http://purl.bioontology.org/ontology/MESH/D056684

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D019896

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D012873

http://purl.bioontology.org/ontology/MESH/D044148

http://purl.bioontology.org/ontology/MESH/D000312

http://purl.bioontology.org/ontology/MESH/D008382
Machine permutation

2002
Mapped from

http://purl.bioontology.org/ontology/MESH/C535733

http://purl.bioontology.org/ontology/MESH/C564508

http://purl.bioontology.org/ontology/MESH/C536801

http://purl.bioontology.org/ontology/MESH/C535449

http://purl.bioontology.org/ontology/MESH/C579849

http://purl.bioontology.org/ontology/MESH/C538036

http://purl.bioontology.org/ontology/MESH/C535918

http://purl.bioontology.org/ontology/MESH/C535486

http://purl.bioontology.org/ontology/MESH/C567585

http://purl.bioontology.org/ontology/MESH/C537635

http://purl.bioontology.org/ontology/MESH/C538356

http://purl.bioontology.org/ontology/MESH/C536987

http://purl.bioontology.org/ontology/MESH/C580205

http://purl.bioontology.org/ontology/MESH/C538309

http://purl.bioontology.org/ontology/MESH/C537639

http://purl.bioontology.org/ontology/MESH/C565001

http://purl.bioontology.org/ontology/MESH/C538288

http://purl.bioontology.org/ontology/MESH/C567626

http://purl.bioontology.org/ontology/MESH/C579850

http://purl.bioontology.org/ontology/MESH/C563482

http://purl.bioontology.org/ontology/MESH/C567173

http://purl.bioontology.org/ontology/MESH/C537818

http://purl.bioontology.org/ontology/MESH/C567705

http://purl.bioontology.org/ontology/MESH/C567810

http://purl.bioontology.org/ontology/MESH/C567439

http://purl.bioontology.org/ontology/MESH/C536519

http://purl.bioontology.org/ontology/MESH/C537641

http://purl.bioontology.org/ontology/MESH/C536798

http://purl.bioontology.org/ontology/MESH/C537804

http://purl.bioontology.org/ontology/MESH/C537763

http://purl.bioontology.org/ontology/MESH/C538355

http://purl.bioontology.org/ontology/MESH/C565370

http://purl.bioontology.org/ontology/MESH/C536796

http://purl.bioontology.org/ontology/MESH/C565160

http://purl.bioontology.org/ontology/MESH/C538087

http://purl.bioontology.org/ontology/MESH/C536580

http://purl.bioontology.org/ontology/MESH/C538105

http://purl.bioontology.org/ontology/MESH/C537636

http://purl.bioontology.org/ontology/MESH/C535484

http://purl.bioontology.org/ontology/MESH/C537643

http://purl.bioontology.org/ontology/MESH/C567717

http://purl.bioontology.org/ontology/MESH/C536803

http://purl.bioontology.org/ontology/MESH/C535296

http://purl.bioontology.org/ontology/MESH/C535362

http://purl.bioontology.org/ontology/MESH/C563051

http://purl.bioontology.org/ontology/MESH/C536682

http://purl.bioontology.org/ontology/MESH/C563382

http://purl.bioontology.org/ontology/MESH/C566980

http://purl.bioontology.org/ontology/MESH/C579873

http://purl.bioontology.org/ontology/MESH/C537810

http://purl.bioontology.org/ontology/MESH/C537813
MDA

20010725
MMR

20090706
MN

C16.320.180

C16.131.260
notation

D025063
prefLabel

Chromosome Disorders
TERMUI

T429687

T429524

T429525

T429526
TH

NLM (2002)

ORD (2010)
tui

T019

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D000013

http://purl.bioontology.org/ontology/MESH/D030342
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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD10CN/Q99.9 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q99.9 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q99.9 International Classification of Diseases, Version 10 CUI