16p12.2 microdeletion syndrome   768471006

SNOMED CT code


SNOMED code768471006
name16p12.2 microdeletion syndrome
statusactive
date introduced2018-07-31
fully specified name(s)16p12.2 microdeletion syndrome (disorder)
synonyms
  • 16p12.2 microdeletion
  • 16p12.2 microdeletion syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteShort arm of chromosome   278145009
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteChromosome pair 16   39220001
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
parents
  • Deletion of part of short arm of chromosome 16   726388008
  • 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 16   53392002
              Deletion of part of chromosome 16   726387003
                Deletion of part of short arm of chromosome 16   726388008
                  16p12.2 microdeletion syndrome   768471006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              16p12.2 microdeletion syndrome   768471006

ancestors
sorted most to least specific
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