Distal trisomy 20q syndrome   764500002

SNOMED CT code


SNOMED code764500002
nameDistal trisomy 20q syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Distal trisomy 20q syndrome (disorder)
synonyms
  • Distal trisomy 20q
  • Distal duplication 20q
  • Telomeric duplication 20q
  • Distal trisomy 20q syndrome
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial trisomy   133849008
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
Finding siteChromosome pair 20   25610001
parents
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
            Partial trisomy of chromosome 20   726360002
              20q partial trisomy   1479009
                Distal trisomy 20q syndrome   764500002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Distal trisomy 20q syndrome   764500002

ancestors
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