14q32 duplication syndrome   1234830005

SNOMED CT code


SNOMED code1234830005
name14q32 duplication syndrome
statusactive
date introduced2022-07-31
fully specified name(s)14q32 duplication syndrome (disorder)
synonyms
  • 14q32 duplication syndrome
  • Trisomy 14q32
  • Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
attributes - group1
OccurrenceCongenital   255399007
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial trisomy   133849008
attributes - group2
OccurrenceCongenital   255399007
Finding siteChromosome pair 14   66933007
Associated morphologyPartial trisomy   133849008
parents
  • Autosomal dominant hereditary disorder   11164009
  • 14q partial trisomy   7586009
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
              14q32 duplication syndrome   1234830005

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 14   726353008
              14q partial trisomy   7586009
                14q32 duplication syndrome   1234830005

ancestors
sorted most to least specific
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