20p12.2 deletion syndrome   890117001

SNOMED CT code


SNOMED code890117001
name20p12.2 deletion syndrome
statusactive
date introduced2021-01-31
fully specified name(s)20p12.2 deletion syndrome (disorder)
synonyms20p12.2 deletion syndrome
attributes - group1
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
Finding siteChromosome pair 20   25610001
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteShort arm of chromosome   278145009
Associated morphologyPartial monosomy   371169004
parents
  • Congenital malformation   276654001
  • Deletion of part of short arm of chromosome 20   726397007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          20p12.2 deletion syndrome   890117001

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 20   9839007
              Deletion of part of chromosome 20   726395004
                Deletion of part of short arm of chromosome 20   726397007
                  20p12.2 deletion syndrome   890117001

ancestors
sorted most to least specific
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