22q13.3 deletion syndrome   699310000

SNOMED CT code


SNOMED code699310000
name22q13.3 deletion syndrome
statusactive
date introduced2014-01-31
fully specified name(s)22q13.3 deletion syndrome (disorder)
synonyms
  • Phelan-McDermid syndrome
  • 22q13.3 deletion syndrome
  • Monosomy 22q13
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
Pathological processPathological developmental process   308490002
Finding siteChromosome pair 22   79229009
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
parents
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 22   70452003
              Deletion of part of chromosome 22   726399005
                22q partial monosomy   19550003
                  22q13.3 deletion syndrome   699310000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          22q13.3 deletion syndrome   699310000

ancestors
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