Trisomy 1q syndrome   768927001

SNOMED CT code


SNOMED code768927001
nameTrisomy 1q syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Trisomy 1q syndrome (disorder)
synonyms
  • Trisomy 1q syndrome
  • Duplication 1q
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyPartial trisomy   133849008
Finding siteLong arm of chromosome   312242007
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
Finding siteChromosome pair 1   46507000
parents
  • Partial trisomy of long arm of chromosome 1   768931007
  • 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
            Partial trisomy of chromosome 1   726338000
              Partial trisomy of long arm of chromosome 1   768931007
                Trisomy 1q syndrome   768927001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Trisomy 1q syndrome   768927001

ancestors
sorted most to least specific
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