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

17q12 microduplication syndrome   764435003

SNOMED CT code


SNOMED code764435003
name17q12 microduplication syndrome
statusactive
date introduced2018-07-31
fully specified name(s)17q12 microduplication syndrome (disorder)
synonyms
  • Chromosome 17q12 duplication syndrome
  • 17q12 duplication syndrome
  • 17q12 microduplication syndrome
  • Trisomy 17q12
attributes - group2
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
Finding siteChromosome pair 17   45201007
attributes - group1
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
Finding siteLong arm of chromosome   312242007
parents17q partial trisomy syndrome   48812004
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 17   726356000
              17q partial trisomy syndrome   48812004
                17q12 microduplication syndrome   764435003

ancestors
sorted most to least specific
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