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

Klinefelter syndrome   22053006

SNOMED CT code


SNOMED code22053006
nameKlinefelter syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Klinefelter syndrome (disorder)
synonyms
  • Klinefelter syndrome
  • Klinefelter's syndrome
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyAlteration of chromosome structure   41669009
Finding siteSex chromosome X   72837006
parents
  • Anomaly of chromosome X   111312006
  • Sex chromosome abnormality - male phenotype   254284003
children
  • Klinefelter's syndrome - male with more than two X chromosomes   268300003  removed: 2015-07-31
  • Klinefelter's syndrome NOS   205701007  removed: 2010-01-31
  • Klinefelter's syndrome XXXXY   275264009
  • Klinefelter's syndrome XXXY   275263003
  • Klinefelter's syndrome, XXY   405769009
  • Klinefelter's syndrome, XXYY   205699007
  • Klinefelter's syndrome, XY/XXY mosaic   205700008
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
                Klinefelter syndrome   22053006

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 - male phenotype   254284003
                Klinefelter syndrome   22053006

ancestors
sorted most to least specific
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