Turner syndrome   38804009

SNOMED CT code


SNOMED code38804009
nameTurner syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Turner syndrome (disorder)
synonyms
  • Turner's syndrome
  • TS - Turner's syndrome
  • Turner syndrome
  • Pterygolymphangiectasia syndrome
  • Bonnevie-Ullrich syndrome
  • Gonadal dysgenesis syndrome
attributes - group2
OccurrenceCongenital   255399007
Finding siteSex chromosome X   72837006
Associated morphologyChromosomal morphology   107675007
parents
  • Anomaly of chromosome X   111312006
  • Sex chromosome abnormality - female phenotype   254277006
children
  • [X]Other variants of Turner's syndrome   205993006  removed: 2009-01-31
  • Bonnevie-Ullrich syndrome NOS   254279009  removed: 2010-01-31
  • Karyotype 46, X iso (Xq)   205686009
  • Karyotype 46, X with abnormal sex chromosome except iso (Xq)   205687000
  • Monosomy X   710008008
  • Mosaic Turner syndrome   710010005
  • Mosaicism 45, X / other cell line with abnormal sex chromosome   205689002  removed: 2015-07-31
  • Ovarian dwarfism NEC   254278001  removed: 2010-01-31
  • Turner's phenotype - ring chromosome karyotype   254281006
  • Turner's phenotype, karyotype normal   205684007
  • Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY   205688005  removed: 2015-07-31
  • Turner's phenotype, other variant karyotypes   268298003  removed: 2010-01-31
  • Turner's phenotype, partial X deletion karyotype   254280007
  • Turner's syndrome NOS   268299006  removed: 2010-01-31
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of sex chromosome   95462004
              Anomaly of chromosome X   111312006
                Turner syndrome   38804009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of sex chromosome   95462004
              Sex chromosome abnormality - female phenotype   254277006
                Turner syndrome   38804009

ancestors
sorted most to least specific
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