Chromosome 16p11.2 deletion syndrome   699307007

SNOMED CT code


SNOMED code699307007
nameChromosome 16p11.2 deletion syndrome
statusactive
date introduced2014-01-31
fully specified name(s)Chromosome 16p11.2 deletion syndrome (disorder)
synonyms
  • Chromosome 16p11.2 deletion syndrome
  • 16p11.2 deletion syndrome
attributes - group1
Finding siteShort arm of chromosome   278145009
Associated morphologyPartial monosomy   371169004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Finding siteChromosome pair 16   39220001
Associated morphologyPartial monosomy   371169004
Pathological processPathological developmental process   308490002
parents
  • Congenital malformation   276654001
  • Deletion of part of short arm of chromosome 16   726388008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Chromosome 16p11.2 deletion syndrome   699307007

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 16   53392002
              Deletion of part of chromosome 16   726387003
                Deletion of part of short arm of chromosome 16   726388008
                  Chromosome 16p11.2 deletion syndrome   699307007

ancestors
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