SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Disorder of immune function  414029004

Immunodeficiency disorder  234532001

Primary immune deficiency disorder  58606001

Immunodeficiency associated with chromosomal abnormality  234632005

Bloom syndrome   4434006

SNOMED CT code


SNOMED code4434006
nameBloom syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Bloom syndrome (disorder)
synonyms
  • BS - Bloom syndrome
  • Bloom syndrome
  • Congenital telangiectatic erythema syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group2
Pathological processAbnormal immune process   769247005
attributes - group4
InterpretsHeight / growth measure   271603002
attributes - group3
Associated withChromosomal disorder   409709004
parents
  • Immunodeficiency associated with chromosomal abnormality   234632005
  • Congenital immunodeficiency disease   36138009
  • Multiple malformation syndrome, small stature, without skeletal dysplasia   41483000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Immunodeficiency disorder   234532001
          Primary immune deficiency disorder   58606001
            Immunodeficiency associated with chromosomal abnormality   234632005
              Bloom syndrome   4434006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Bloom syndrome   4434006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Congenital malformation syndromes associated with short stature   205808005
            Multiple malformation syndrome, small stature, without skeletal dysplasia   41483000
              Bloom syndrome   4434006

ancestors
sorted most to least specific
  • Immunodeficiency associated with chromosomal abnormality   234632005
  • Congenital immunodeficiency disease   36138009
  • Multiple malformation syndrome, small stature, without skeletal dysplasia   41483000
  • Primary immune deficiency disorder   58606001
  • Congenital malformation syndromes associated with short stature   205808005
  • Multiple system malformation syndrome   82354003
  • Immunodeficiency disorder   234532001
  • Short stature disorder   237836003
  • Congenital malformation syndrome   400038003
  • Disorder of immune function   414029004
  • Disorder of stature   237834000
  • Congenital malformation   276654001
  • General finding of height   248327008
  • Congenital disease   66091009
  • Developmental disorder   5294002
  • Finding of general physiological development   271616002
  • Disease   64572001
  • Height / growth finding   365714001
  • Body measurement finding   365605003
  • Clinical finding   404684003
  • SNOMED CT Concept   138875005
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
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