89454001: Shwachman syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Finding of white blood cell number\White blood cell count outside reference range\...
• \Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Digestive system finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Shwachman syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Shwachman syndrome
• \White blood cell disorder\Hereditary white blood cell disorder\Shwachman syndrome
• \White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Shwachman syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Shwachman syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Shwachman syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Shwachman syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Shwachman syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Shwachman syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Shwachman syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Shwachman syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Shwachman syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
148318012	Shwachman syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
148320010	Shwachman-Diamond syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
148321014	Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
508513012	Metaphyseal dysplasia with malabsorption and neutropenia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
508514018	Metaphyseal chondrodysplasia, Shwachman type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
508515017	Schwachman's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
508516016	Schwachman-Diamond syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
508517013	Schwachman-Bodian syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
508518015	Shwachman's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
508519011	Congenital lipomatosis of pancreas	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
508520017	Schwachmann-Diamond syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
832351017	Shwachman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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