2p21 microdeletion syndrome   719652007

SNOMED CT code


SNOMED code719652007
name2p21 microdeletion syndrome
statusactive
date introduced2017-01-31
fully specified name(s)2p21 microdeletion syndrome (disorder)
synonyms
  • 2p21 microdeletion syndrome
  • Monosomy 2p21
attributes - group2
Finding siteShort arm of chromosome   278145009
Associated morphologyPartial monosomy   371169004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group1
OccurrenceCongenital   255399007
Finding siteChromosome pair 2   113354003
Associated morphologyPartial monosomy   371169004
Pathological processPathological developmental process   308490002
parents
  • Developmental hereditary disorder   363070008
  • Deletion of part of short arm of chromosome 2   726368009
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          2p21 microdeletion syndrome   719652007

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 2   32299009
              Deletion of part of chromosome 2   726366008
                Deletion of part of short arm of chromosome 2   726368009
                  2p21 microdeletion syndrome   719652007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              2p21 microdeletion syndrome   719652007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              2p21 microdeletion syndrome   719652007

ancestors
sorted most to least specific
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