PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Chromosome Disorders

Synonyms
Definitions

A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.

ID

http://www.phoc.org.cn/pmo/class/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

Definition

A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.

label

Chromosome Disorders

MCID

MC00002827

PMOID

PMO:00040104

prefixIRI

pmo:PMO_00040104

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

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

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