Anomaly of chromosome X (disorder)
| Code | 111312006 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | defined |
| Effective time | 20140731 |
95462004Anomaly of sex chromosome
disorder
77090800749,XXXYY syndrome
disorder
720982007Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
disorder
733626002Atypical Norrie disease due to monosomy Xp11.3
disorder
717761005Choroideraemia with deafness and obesity syndrome
disorder
719808002Chromosome Xp11.3 microdeletion syndrome
disorder
726733007Chromosome Xp22.3 microdeletion syndrome
disorder
718881004Chromosome Xq27.3q28 duplication syndrome
disorder
773670004Distal Xq28 microduplication syndrome
disorder
205720009Fragile X chromosome
disorder
770750002Intellectual disability, seizures, macrocephaly, obesity syndrome
disorder
22053006Klinefelter syndrome
disorder
702816000MECP2 duplication syndrome
disorder
783735004Maternal uniparental disomy of chromosome X
disorder
721881008Microduplication Xp11.22p11.23 syndrome
disorder
783718003Paternal uniparental disomy of chromosome X
disorder
43248007Penta X syndrome
disorder
10567003Tetrasomy X syndrome
disorder
35111009Trisomy X syndrome
disorder
38804009Turner syndrome
disorder
766760004X small rings
disorder
789187001X-linked acrogigantism due to Xq26 microduplication
disorder
726106004X-linked diffuse leiomyomatosis with Alport syndrome
disorder
1255278004X-linked myotubular myopathy, abnormal genitalia syndrome
disorder
74398009XX males
disorder
38847009XXXXY syndrome
disorder
78317008XXXY syndrome
disorder
1295529002Xp21 deletion syndrome
disorder
782877002Xp22.13p22.2 duplication syndrome
disorder
764711007Xq12-q13.3 duplication syndrome
disorder
1229872004Xq25 microduplication syndrome
disorder