Anomaly of chromosome X 111312006 SNOMED CT code SNOMED code 111312006 name Anomaly of chromosome X status active date introduced 2002-01-31 fully specified name(s) Anomaly of chromosome X (disorder) synonyms Anomaly of chromosome X attributes - group2 Occurrence Congenital 255399007 Associated morphology Chromosomal morphology 107675007 Finding site Sex chromosome X 72837006 parents Anomaly of sex chromosome 95462004 children 49,XXXYY syndrome 770908007 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 Atypical Norrie disease due to monosomy Xp11.3 733626002 Choroideremia with deafness and obesity syndrome 717761005 Chromosome Xp11.3 microdeletion syndrome 719808002 Chromosome Xp22.3 microdeletion syndrome 726733007 Chromosome Xq27.3q28 duplication syndrome 718881004 Distal Xq28 microduplication syndrome 773670004 Four X syndrome 10567003 Fragile X chromosome 205720009 Intellectual disability, seizures, macrocephaly, obesity syndrome 770750002 Klinefelter syndrome 22053006 Klinefelter's syndrome 405770005 removed: 2004-07-31 Maternal uniparental disomy of chromosome X 783735004 Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome 702816000 Microduplication Xp11.22p11.23 syndrome 721881008 Paternal uniparental disomy of chromosome X 783718003 Penta X syndrome 43248007 Trisomy X syndrome 35111009 Turner syndrome 38804009 X small rings 766760004 X-linked acrogigantism due to Xq26 microduplication 789187001 X-linked diffuse leiomyomatosis with Alport syndrome 726106004 X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004 Xp21 deletion syndrome 1295529002 Xp22.13p22.2 duplication syndrome 782877002 Xq12-q13.3 duplication syndrome 764711007 Xq25 microduplication syndrome 1229872004 XX males 74398009 XXXXY syndrome 38847009 XXXY syndrome 78317008 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 409709004 74345006 362984008 95462004 111312006 ancestors sorted most to least specific
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