Chédiak-Higashi syndrome   111396008

SNOMED CT code


SNOMED code111396008
nameChédiak-Higashi syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Chédiak-Higashi syndrome (disorder)
synonyms
  • Chediak-Steinbrinck-Higashi syndrome
  • Chediak-Higashi syndrome
  • Hereditary gigantism of cytoplasmic organelles
  • Granulation anomaly of leukocytes
  • Congenital gigantism of peroxidase granules
  • Beguez Cesar disease
  • Chediak anomaly
  • Chediak-Steinbrinck anomaly
  • Chédiak-Higashi syndrome
  • Chédiak anomaly
  • Chédiak-Steinbrinck anomaly
  • Hereditary leukomelanopathy
  • Steinbrinck anomaly
  • Béguez César disease
  • Chediak Higashi syndrome
  • Granulation anomaly of leucocytes
attributes - group1
Pathological processAbnormal immune process   769247005
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDecreased melanin pigmentation   37257004
attributes - group3
Has interpretationAbnormal   263654008
InterpretsHemostatic function   74848003
attributes - group4
Finding siteImmune system structure   116003000
parents
childrenAttenuated Chédiak-Higashi syndrome   720520009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Non-malignant white cell disorder   234414004
            Chemotactic disorder   234429002
              Chédiak-Higashi syndrome   111396008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Platelet storage pool defect   128099001
          Dense body defect   234474009
            Chédiak-Higashi syndrome   111396008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of immune structure   414030009
          Combined phagocytic defect   234591005
            Chédiak-Higashi syndrome   111396008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Granulocyte granule deficiency   289317009
            Chédiak-Higashi syndrome   111396008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Chédiak-Higashi syndrome   111396008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Hereditary white blood cell disorder   414395005
            Chédiak-Higashi syndrome   111396008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of pigmentation   414032001
        Albinism   15890002
          Partial albinism   6479008
            Chédiak-Higashi syndrome   111396008

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