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Congenital chromosomal disease 74345006 SNOMED CT code SNOMED code 74345006 name Congenital chromosomal disease status active date introduced 2002-01-31 fully specified name(s) Congenital disorder due to abnormality of chromosome number OR structure (disorder) synonyms Chromosomopathy Chromosomal abnormality syndrome Chromosomal hereditary disorder Chromosomal imbalance syndrome Anomaly of chromosome Congenital chromosomal disease Congenital disorder due to abnormality of chromosome number OR structure attributes - group1 Occurrence Congenital 255399007 Associated morphology Morphologically abnormal structure 49755003 Finding site Chromosome structure 312237004 parents children [X]Chromosomal abnormalities, not elsewhere classified 205987003 removed: 2009-01-31 [X]Other specified chromosome abnormalities 205997007 removed: 2009-01-31 [X]Townes-Brocks syndrome 413379002 removed: 2009-01-31 Anomaly of chromosome pair 362984008 Chimera 2229005 Chromosomal anomalies NOS 205724000 removed: 2010-01-31 Chromosome replaced with ring or dicentric 268294001 removed: 2021-01-31 Duplication seen only at prometaphase 205665009 Duplication with other complex rearrangement 205666005 Emanuel syndrome 702417004 Group chromosomal alteration 123645005 Mosaic variegated aneuploidy syndrome 700056005 Other condition due to autosomal anomaly 205645002 removed: 2010-01-31 Other sex chromosome anomaly 205704004 removed: 2010-01-31 Pallister-Killian syndrome 395657006 removed: 2015-01-31 Polyploidy syndrome 72991005 Pseudotrisomy 18 254261005 Ring chromosome 1010276004 Triploidy and polyploidy 254272000 Triploidy, diploidy, mixoploidy syndrome 10177005 Trisomy and partial trisomy of autosome 270521004 XXYY syndrome 403760006 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital chromosomal disease 74345006 ancestors sorted most to least specific
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