Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Chromosome Disorders
Synonyms	Chromosomal Disorders Chromosomal Disorder Autosomal Chromosome Disorder Disorders, Chromosomal Chromosome Abnormality Disorders Disorder, Chromosome Chromosome Disorder, Autosomal Chromosome Abnormality Disorder Chromosome Disorders, Autosomal Disorders, Chromosome Disorder, Chromosomal Autosomal Chromosome Disorders Chromosome Disorder Disorder, Chromosome Abnormality
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	Chromosomal Disorders Chromosomal Disorder Autosomal Chromosome Disorder Disorders, Chromosomal Chromosome Abnormality Disorders Disorder, Chromosome Chromosome Disorder, Autosomal Chromosome Abnormality Disorder Chromosome Disorders, Autosomal Disorders, Chromosome Disorder, Chromosomal Autosomal Chromosome Disorders Chromosome Disorder Disorder, Chromosome Abnormality
AN	general or unspecified; prefer specifics; coordinate with specific numbered chromosome
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	D003582 D005826
HN	2002; see CHROMOSOMAL ABNORMALITIES 1978-1995
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D003582 http://purl.bioontology.org/ontology/MESH/D005826 http://purl.bioontology.org/ontology/MESH/D002869
Machine permutation	2002
Mapped from	http://purl.bioontology.org/ontology/MESH/C579873 http://purl.bioontology.org/ontology/MESH/C537763 http://purl.bioontology.org/ontology/MESH/C563051 http://purl.bioontology.org/ontology/MESH/C538288 http://purl.bioontology.org/ontology/MESH/C564508 http://purl.bioontology.org/ontology/MESH/C536987 http://purl.bioontology.org/ontology/MESH/C579849 http://purl.bioontology.org/ontology/MESH/C537804 http://purl.bioontology.org/ontology/MESH/C537643 http://purl.bioontology.org/ontology/MESH/C537641 http://purl.bioontology.org/ontology/MESH/C536798 http://purl.bioontology.org/ontology/MESH/C536796 http://purl.bioontology.org/ontology/MESH/C535449 http://purl.bioontology.org/ontology/MESH/C538087 http://purl.bioontology.org/ontology/MESH/C567810 http://purl.bioontology.org/ontology/MESH/C567585 http://purl.bioontology.org/ontology/MESH/C536682 http://purl.bioontology.org/ontology/MESH/C535733 http://purl.bioontology.org/ontology/MESH/C567717 http://purl.bioontology.org/ontology/MESH/C538105 http://purl.bioontology.org/ontology/MESH/C537639 http://purl.bioontology.org/ontology/MESH/C537635 http://purl.bioontology.org/ontology/MESH/C537636 http://purl.bioontology.org/ontology/MESH/C567705 http://purl.bioontology.org/ontology/MESH/C538355 http://purl.bioontology.org/ontology/MESH/C538356 http://purl.bioontology.org/ontology/MESH/C538309 http://purl.bioontology.org/ontology/MESH/C535362 http://purl.bioontology.org/ontology/MESH/C567626 http://purl.bioontology.org/ontology/MESH/C537813 http://purl.bioontology.org/ontology/MESH/C537818 http://purl.bioontology.org/ontology/MESH/C537810 http://purl.bioontology.org/ontology/MESH/C579850 http://purl.bioontology.org/ontology/MESH/C565160 http://purl.bioontology.org/ontology/MESH/C535918 http://purl.bioontology.org/ontology/MESH/C536519 http://purl.bioontology.org/ontology/MESH/C000726748 http://purl.bioontology.org/ontology/MESH/C535296 http://purl.bioontology.org/ontology/MESH/C567439 http://purl.bioontology.org/ontology/MESH/C536580 http://purl.bioontology.org/ontology/MESH/C535484 http://purl.bioontology.org/ontology/MESH/C535486 http://purl.bioontology.org/ontology/MESH/C563382 http://purl.bioontology.org/ontology/MESH/C566980 http://purl.bioontology.org/ontology/MESH/C538036 http://purl.bioontology.org/ontology/MESH/C580205 http://purl.bioontology.org/ontology/MESH/C536801 http://purl.bioontology.org/ontology/MESH/C536803 http://purl.bioontology.org/ontology/MESH/C565001 http://purl.bioontology.org/ontology/MESH/C567173 http://purl.bioontology.org/ontology/MESH/C563482 http://purl.bioontology.org/ontology/MESH/C565370
MDA	20010725
MMR	20090706
MN	C16.131.260 C16.320.180
notation	D025063
prefLabel	Chromosome Disorders
TERMUI	T429525 T429687 T429524 T429526
TH	NLM (2002) ORD (2010)
tui	T047 T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D000013 http://purl.bioontology.org/ontology/MESH/D030342

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/403759001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/403759001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10003842	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10003842	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D025063	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10003842	MDRFRE	CUI
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/NDFRT/N0000000783	NDFRT	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/NDFRT/N0000000784	NDFRT	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/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
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D025063	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0021112	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180	RH-MESH	LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Chromosome_Disorders	APADISORDERS	LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Chromosome_Disorders	APAONTO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040104	PMAPP-PMO	LOOM