89454001: Shwachman syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\White blood cell number - finding\White blood cell count abnormal\...

\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\Neutrophil count abnormal\Neutrophil count below reference range\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 blood, lymphatics and immune system\Blood disease\...

\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\Leucopenia\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic 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\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Shwachman syndrome
\Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Shwachman syndrome
\Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\Blood disease\White blood cell disorder\Leucopenia\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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 retroperitoneum\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

148318012 Shwachman syndrome en Synonym Active Case sensitive SNOMED CT core

148320010 Shwachman-Diamond syndrome en Synonym Active Case sensitive SNOMED CT core

148321014 Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia en Synonym Active Initial character case insensitive SNOMED CT core

508513012 Metaphyseal dysplasia with malabsorption and neutropenia en Synonym Active Case insensitive SNOMED CT core

508514018 Metaphyseal chondrodysplasia, Shwachman type en Synonym Active Initial character case insensitive SNOMED CT core

508515017 Schwachman's syndrome en Synonym Active Case sensitive SNOMED CT core

508516016 Schwachman-Diamond syndrome en Synonym Active Case sensitive SNOMED CT core

508517013 Schwachman-Bodian syndrome en Synonym Active Case sensitive SNOMED CT core

508518015 Shwachman's syndrome en Synonym Active Case sensitive SNOMED CT core

508519011 Congenital lipomatosis of pancreas en Synonym Active Case insensitive SNOMED CT core

508520017 Schwachmann-Diamond syndrome en Synonym Active Case sensitive SNOMED CT core

832351017 Shwachman syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Shwachman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Pancreatic structure	true	Inferred relationship	Some	2
Shwachman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Shwachman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Shwachman syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Shwachman syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	4
Shwachman syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Shwachman syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Shwachman syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Shwachman syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Structure of digestive system	false	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Structure of immune system	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Shwachman syndrome	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
Shwachman syndrome	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Shwachman syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital immunodeficiency disease	false	Inferred relationship	Some
Shwachman syndrome	Has definitional manifestation	Neutrophil count below reference range	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital neutropenia	true	Inferred relationship	Some
Shwachman syndrome	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Shwachman syndrome	Is a	Neutropenic disorder	false	Inferred relationship	Some
Shwachman syndrome	Is a	Pancreatic insufficiency	true	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital anomaly of pancreas	false	Inferred relationship	Some
Shwachman syndrome	Is a	Multisystem disorder S-T	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital anomaly of pancreas	false	Inferred relationship	Some
Shwachman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Digestive organ structure	false	Inferred relationship	Some	2
Shwachman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Digestive organ structure	false	Inferred relationship	Some	2
Shwachman syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Pancreatic structure	false	Inferred relationship	Some	1
Shwachman syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Shwachman syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Shwachman syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Shwachman syndrome	Is a	Hereditary white blood cell disorder	true	Inferred relationship	Some
Shwachman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Shwachman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Shwachman syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Shwachman syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Shwachman syndrome	Finding site	Pancreatic structure	false	Inferred relationship	Some	3
Shwachman syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Shwachman syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Shwachman syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Shwachman syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Shwachman syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Shwachman syndrome	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Leucocyte	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Digestive organ structure	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Pancreatic structure	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Shwachman syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Haematopoietic system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

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