12q15q21.1 microdeletion syndrome   734030009

SNOMED CT code


SNOMED code734030009
name12q15q21.1 microdeletion syndrome
statusactive
date introduced2017-07-31
fully specified name(s)12q15q21.1 microdeletion syndrome (disorder)
synonyms
  • 12q15q21.1 microdeletion syndrome
  • Deletion 12q15q21.1
  • Monosomy 12q15q21.1
attributes - group1
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteChromosome pair 12   17897000
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
parents
  • Congenital malformation   276654001
  • Deletion of part of long arm of chromosome 12   726383004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          12q15q21.1 microdeletion syndrome   734030009

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 12   37535007
              Deletion of part of chromosome 12   726382009
                Deletion of part of long arm of chromosome 12   726383004
                  12q15q21.1 microdeletion syndrome   734030009

ancestors
sorted most to least specific
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