Chromosomal disorder

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)

Also known as chromosomal disease, chromosomal disorder, chromosomal disorders, chromosome disorder, disorder, chromosomal, disorder, chromosome, disorders, chromosomal, disorders, chromosome — per MONDO

Also identified as

• DOID 0080014 per MONDO
• ICD10CM Q90-Q99 per MONDO
• ICD9 758.89 per MONDO
• MESH D025063 per MONDO
• NCIT C34470 per MONDO
• Orphanet 68335 per MONDO
• SCTID 409709004 per MONDO
• UMLS C0008626 per MONDO