Shwachman syndrome   89454001

SNOMED CT code


SNOMED code89454001
nameShwachman syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Shwachman syndrome (disorder)
synonyms
  • Shwachman syndrome
  • Shwachman-Diamond syndrome
  • Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia
  • Metaphyseal dysplasia with malabsorption and neutropenia
  • Metaphyseal chondrodysplasia, Shwachman type
  • Schwachman's syndrome
  • Schwachman-Diamond syndrome
  • Schwachman-Bodian syndrome
  • Shwachman's syndrome
  • Congenital lipomatosis of pancreas
  • Schwachmann-Diamond syndrome
attributes - group2
OccurrenceCongenital   255399007
Finding sitePancreatic structure   15776009
Pathological processPathological developmental process   308490002
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
attributes - group4
Pathological processAbnormal immune process   769247005
attributes - group5
InterpretsHeight / growth measure   271603002
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsNeutrophil count   30630007
parents
  • Metaphyseal chondrodysplasia   28681006
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of endocrine system   363104002
  • Hereditary disorder of musculoskeletal system   363212003
  • Pancreatic insufficiency   37992001
  • Hereditary white blood cell disorder   414395005
  • Hereditary cancer-predisposing syndrome   699346009
  • Congenital neutropenia   89655007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Metaphyseal chondrodysplasia   28681006
              Shwachman syndrome   89454001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Shwachman syndrome   89454001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Shwachman syndrome   89454001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Shwachman syndrome   89454001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Shwachman syndrome   89454001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Finding of pancreas   300357002
        Disorder of pancreas   3855007
          Pancreatic insufficiency   37992001
            Shwachman syndrome   89454001

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
            Shwachman syndrome   89454001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Shwachman syndrome   89454001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Congenital neutropenia   89655007
            Shwachman syndrome   89454001

ancestors
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