17q23.1-q23.2 duplication syndrome   890110004

SNOMED CT code


SNOMED code890110004
name17q23.1-q23.2 duplication syndrome
statusactive
date introduced2021-01-31
fully specified name(s)17q23.1-q23.2 duplication syndrome (disorder)
synonyms17q23.1-q23.2 duplication syndrome
attributes - group1
Finding siteLong arm of chromosome   312242007
OccurrenceCongenital   255399007
Associated morphologyPartial trisomy   133849008
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteChromosome pair 17   45201007
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital malformation   276654001
  • Developmental hereditary disorder   363070008
  • 17q partial trisomy syndrome   48812004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              17q23.1-q23.2 duplication syndrome   890110004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          17q23.1-q23.2 duplication syndrome   890110004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          17q23.1-q23.2 duplication syndrome   890110004

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 17   726356000
              17q partial trisomy syndrome   48812004
                17q23.1-q23.2 duplication syndrome   890110004

ancestors
sorted most to least specific
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