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 2  726340005

2q partial trisomy syndrome   5982001

SNOMED CT code


SNOMED code5982001
name2q partial trisomy syndrome
statusactive
date introduced2002-01-31
fully specified name(s)2q partial trisomy syndrome (disorder)
synonyms2q partial trisomy syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteChromosome pair 2   113354003
Associated morphologyPartial trisomy   133849008
parentsPartial trisomy of chromosome 2   726340005
children
  • 2q23.1 microduplication syndrome   766816008
  • Distal trisomy 2q   763272003
  • Medial duplication of long arm of chromosome 2   1003412004
  • Proximal duplication of long arm of chromosome 2   1003869005
  • Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005
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 2   726340005
              2q partial trisomy syndrome   5982001

ancestors
sorted most to least specific
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