PMO Precision Medicine Ontology - Chromosome Disorders - Classes | NCBO BioPortal

PMO Precision Medicine Ontology

Last uploaded: December 16, 2020

Id	http://www.phoc.org.cn/pmo/class/PMO_00040104 http://www.phoc.org.cn/pmo/class/PMO_00040104
Preferred Name	Chromosome Disorders
Definitions	A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
Type	http://www.w3.org/2002/07/owl#Class

label	Chromosome Disorders
prefLabel	Chromosome Disorders
Synonym	Chromosomal Aberrations Chromosome Abnormality Disorders Chromosome disorder chromosome disorders Chromosomal anomaly Conditions due to anomaly of unspecified chromosome NOS (disorder) 4-02 CHROMOSOMAL DISEASES anomalies chromosomes Chromosomopathy Chromosomal disease or syndrome Chromosomal anomalies NOS (disorder) chromosomes disorders Conditions due to anomaly of unspecified chromosome NOS Disorders, Chromosome Chromosome Aberrations Cytogenetic abnormality Abnormalities, Chromosome diseases chromosomal chromosomal disorder Cytogenetic Aberrations abnormalities chromosomes Chromosomal abnormality Disorders, Chromosomal CHROMOSOME ABNORMALITY Chromosomal Abnormality Chromosomal abnormality NOS Chromosomal disorder Chromosomal disorder (disorder) abnormality chromosomal chromosome disorder Disorder, Chromosome chromosomes disorder CHROMOSOME DIS Chromosomal abnormality (disorder) Chromosome abnormality Chromosome anomaly NOS chromosomal anomalies Chromosomal Diseases and Syndromes chromosomal abnormality Chromosomal Disorders Congenital chromosomal disease Conditions due to anomaly of unspecified chromosome abnormality chromosome Cytogenetic Abnormalities Disorder, Chromosome Abnormality Chromosomal hereditary disorder CHROMOSOMAL DISEASES Chromosomal imbalance syndrome, NOS Congenital disorder due to abnormality of chromosome number OR structure Abnormal;chromosome(s) Disorder, Chromosomal Chromosomal abnormality syndrome abnormal chromosomes Chromosomal anomalies NOS Chromosomal abnormality, unspecified chromosome anomaly chromosomal diseases chromosomal anomalies (diagnosis) Anomaly of chromosome Chromosomal abnormality syndrome, NOS CHROMOSOME DISORDER CHROMOSOME ABNORM DIS disorders chromosome Chromosomal imbalance syndrome Chromosomal disease, NOS Chromosome Aberrations [Disease/Finding] anomalies chromosome Chromosomal Disorder Chromosome Abnormalities Chromosome Disorder Abnormalities, Chromosomal Chromosome Disorders [Disease/Finding] congenital chromosomal disease Anomaly of chromosome, NOS Chromosomal anomaly NOS chromosomal disease Chromosomopathy, NOS anomaly chromosomal chromosome abnormality Congenital disorder due to abnormality of chromosome number OR structure (disorder) Chromosomal anomalies Chromosome Abnormality Disorder Chromosomal hereditary disorder, NOS CHROMOSOMAL DIS chromosomal disorders See more See less
Definition	A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
PMOID	PMO:00040104
MCID	MC00002827
prefixIRI	pmo:PMO_00040104
Database_Cross_Reference	CST:CHROMOSOME ABNORM NDFRT:N0000000783 ICD9CM:758.9 SNM:D-5500 MTH:NOCODE MSH:D025063 SNOMEDCT_US:205729005 ICPC2P:A90002 PSY:09160 RCD:PJzz. MDR:10067477 CHV:0000002941 SNM:U000360 MDR:10010270 SNOMEDCT_US:157023005 ICD10AM:Q99.9 RCD:PJ... ICD10CM:Q99.9 NDFRT:N0000000784 MDR:10008814 MDR:10008824 SNOMEDCT_US:157018005 NCI:C34470 SNMI:D4-02000 SNOMEDCT_US:74345006 SNM:NOCODE DO:DOID:0080014 MEDCIN:211342 ICD9CM:758 RCD:PJz.. DO:DOID:1086 CSP:1254-7954 MDR:10008815 MDR:10008810 SNOMEDCT_US:205724000 ICD10:Q99.9 SNOMEDCT_US:409709004 See more See less
Tree Number	T9.8.3.9 T9.8.4.32
subClassOf	http://www.phoc.org.cn/pmo/class/PMO_00036558 http://www.phoc.org.cn/pmo/class/PMO_00036512
type	http://www.w3.org/2002/07/owl#Class

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