1q21.1 microdeletion   699305004

SNOMED CT code


SNOMED code699305004
name1q21.1 microdeletion
statusactive
date introduced2014-01-31
fully specified name(s)1q21.1 microdeletion syndrome (disorder)
synonyms
  • Chromosome 1q21.1 deletion syndrome
  • 1q21.1 contiguous gene deletion
  • 1q21.1 microdeletion
  • Microdeletion of chromosome 1q21.1
  • 1q21.1 microdeletion 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
OccurrenceCongenital   255399007
Finding siteChromosome pair 1   46507000
Associated morphologyPartial monosomy   371169004
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          1q21.1 microdeletion   699305004

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 1   74769007
              Deletion of part of chromosome 1   726365007
                1q partial monosomy   30361005
                  1q21.1 microdeletion   699305004

ancestors
sorted most to least specific
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