Congenital chromosomal disease

Congenital disorder due to abnormality of chromosome number OR structure (disorder)

active

Code	`74345006`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20140731

Synonyms

Anomaly of chromosome
Chromosomal abnormality syndrome
Chromosomal hereditary disorder
Chromosomal imbalance syndrome
Chromosomopathy
Congenital disorder due to abnormality of chromosome number OR structure

Parents (2)

409709004Chromosomal disorder disorder
66091009Congenital disease disorder

Children (19)

362984008Anomaly of chromosome pair disorder
95462004Anomaly of sex chromosome disorder
254273005Autosomal deletion - mosaicism disorder
2229005Chimera disorder
16068291000119108Dicentric chromosome disorder
205665009Duplication seen only at prometaphase disorder
205666005Duplication with other complex rearrangement disorder
702417004Emanuel syndrome disorder
123645005Group chromosomal alteration disorder
205627002Monosomy and deletion from autosome disorder
700056005Mosaic variegated aneuploidy syndrome disorder
72991005Polyploidy syndrome disorder
254261005Pseudotrisomy 18 disorder
1010276004Ring chromosome disorder
254272000Triploidy and polyploidy disorder
10177005Triploidy, diploidy, mixoploidy syndrome disorder
270521004Trisomy and partial trisomy of autosome disorder
726400003Uniparental disomy disorder
403760006XXYY syndrome disorder