Distal trisomy 22q syndrome   764512003

SNOMED CT code


SNOMED code764512003
nameDistal trisomy 22q syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Distal trisomy 22q syndrome (disorder)
synonyms
  • Distal duplication 22q
  • Distal trisomy 22q
  • Telomeric duplication 22q
  • Distal trisomy 22q syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyPartial trisomy   133849008
Pathological processPathological developmental process   308490002
Finding siteChromosome pair 22   79229009
parents
  • 22q partial trisomy   50992006
  • 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
          Trisomy and partial trisomy of autosome   270521004
            Trisomy 22   205655003
              Partial trisomy of chromosome 22   726362005
                22q partial trisomy   50992006
                  Distal trisomy 22q syndrome   764512003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Distal trisomy 22q syndrome   764512003

ancestors
sorted most to least specific
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