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

SNOMED CT code


SNOMED code48812004
name17q partial trisomy syndrome
statusactive
date introduced2002-01-31
fully specified name(s)17q partial trisomy syndrome (disorder)
synonyms17q partial trisomy syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteChromosome pair 17   45201007
Associated morphologyPartial trisomy   133849008
parentsPartial trisomy of chromosome 17   726356000
children
  • 17q11.2 microduplication syndrome   719583002
  • 17q12 microduplication syndrome   764435003
  • 17q21.31 microduplication syndrome   716683005
  • 17q23.1-q23.2 duplication syndrome   890110004
  • Distal trisomy 17q   766051001
  • PMP22-RAI1 contiguous gene duplication syndrome   1172899000
  • Proximal duplication of long arm of chromosome 17   1003875001
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

ancestors
sorted most to least specific
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