Congenital chromosomal disease   74345006

SNOMED CT code


SNOMED code74345006
nameCongenital chromosomal disease
statusactive
date introduced2002-01-31
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
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteChromosome 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
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