22q11.2 deletion syndrome   767263007

SNOMED CT code


SNOMED code767263007
name22q11.2 deletion syndrome
statusactive
date introduced2018-07-31
fully specified name(s)22q11.2 deletion syndrome (disorder)
synonyms
  • Velocardiofacial syndrome
  • Sedlackova syndrome
  • Conotruncal anomaly face syndrome
  • Cayler cardiofacial syndrome
  • DiGeorge syndrome
  • Shprintzen syndrome
  • 22q11.2 deletion syndrome
  • DiGeorge sequence
  • CATCH 22
  • Microdeletion 22q11.2
  • Takao syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyPartial monosomy   371169004
Finding siteChromosome pair 22   79229009
OccurrenceCongenital   255399007
parents
  • 22q partial monosomy   19550003
  • Multiple system malformation syndrome   82354003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of chromosome pair 22   70452003
              Deletion of part of chromosome 22   726399005
                22q partial monosomy   19550003
                  22q11.2 deletion syndrome   767263007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              22q11.2 deletion syndrome   767263007

ancestors
sorted most to least specific
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