2q23.1 microdeletion syndrome   719657001

SNOMED CT code


SNOMED code719657001
name2q23.1 microdeletion syndrome
statusactive
date introduced2017-01-31
fully specified name(s)2q23.1 microdeletion syndrome (disorder)
synonyms
  • 2q23.1 microdeletion syndrome
  • Monosomy 2q23.1
  • Pseudo-Angelman syndrome
attributes - group1
Finding siteChromosome pair 2   113354003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
parents
  • Deletion of part of long arm of chromosome 2   726367004
  • 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 2   32299009
              Deletion of part of chromosome 2   726366008
                Deletion of part of long arm of chromosome 2   726367004
                  2q23.1 microdeletion syndrome   719657001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              2q23.1 microdeletion syndrome   719657001

ancestors
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